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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1477784606

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:61638001 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
G=0.00004 (1/23036, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ASPH : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 23036 C=0.99996 G=0.00004, T=0.00000 0.999913 0.0 8.7e-05 0
European Sub 15750 C=1.00000 G=0.00000, T=0.00000 1.0 0.0 0.0 N/A
African Sub 3492 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 122 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 3370 C=1.0000 G=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 168 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 112 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
Other Asian Sub 56 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 G=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 2772 C=0.9996 G=0.0004, T=0.0000 0.999278 0.0 0.000722 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
Allele Frequency Aggregator Total Global 23036 C=0.99996 G=0.00004, T=0.00000
Allele Frequency Aggregator European Sub 15750 C=1.00000 G=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 3492 C=1.0000 G=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 2772 C=0.9996 G=0.0004, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00, T=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 8 NC_000008.11:g.61638001C>A
GRCh38.p14 chr 8 NC_000008.11:g.61638001C>G
GRCh38.p14 chr 8 NC_000008.11:g.61638001C>T
GRCh37.p13 chr 8 NC_000008.10:g.62550560C>A
GRCh37.p13 chr 8 NC_000008.10:g.62550560C>G
GRCh37.p13 chr 8 NC_000008.10:g.62550560C>T
ASPH RefSeqGene NG_013210.1:g.81640G>T
ASPH RefSeqGene NG_013210.1:g.81640G>C
ASPH RefSeqGene NG_013210.1:g.81640G>A
Gene: ASPH, aspartate beta-hydroxylase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ASPH transcript variant 12 NM_001164756.2:c. N/A Genic Downstream Transcript Variant
ASPH transcript variant 5 NM_020164.5:c. N/A Genic Downstream Transcript Variant
ASPH transcript variant 4 NM_032467.4:c. N/A Genic Downstream Transcript Variant
ASPH transcript variant 1 NM_004318.4:c.835G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 1 NP_004309.2:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 1 NM_004318.4:c.835G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 1 NP_004309.2:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 1 NM_004318.4:c.835G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 1 NP_004309.2:p.Val279Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 7 NM_001164751.2:c.790G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 7 NP_001158223.1:p.Val264Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 7 NM_001164751.2:c.790G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 7 NP_001158223.1:p.Val264Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 7 NM_001164751.2:c.790G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 7 NP_001158223.1:p.Val264Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 11 NM_001164755.2:c.706G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 11 NP_001158227.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 11 NM_001164755.2:c.706G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 11 NP_001158227.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 11 NM_001164755.2:c.706G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 11 NP_001158227.1:p.Val236Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 8 NM_001164752.2:c.733G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 8 NP_001158224.1:p.Val245Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 8 NM_001164752.2:c.733G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 8 NP_001158224.1:p.Val245Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 8 NM_001164752.2:c.733G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 8 NP_001158224.1:p.Val245Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 6 NM_001164750.2:c.748G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 6 NP_001158222.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 6 NM_001164750.2:c.748G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 6 NP_001158222.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 6 NM_001164750.2:c.748G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 6 NP_001158222.1:p.Val250Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 3 NM_032466.4:c.835G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 3 NP_115855.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 3 NM_032466.4:c.835G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 3 NP_115855.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 3 NM_032466.4:c.835G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 3 NP_115855.1:p.Val279Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 9 NM_001164753.2:c.664G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 9 NP_001158225.1:p.Val222Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 9 NM_001164753.2:c.664G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 9 NP_001158225.1:p.Val222Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 9 NM_001164753.2:c.664G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 9 NP_001158225.1:p.Val222Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 2 NM_032468.5:c.793G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 2 NP_115857.1:p.Val265Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 2 NM_032468.5:c.793G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 2 NP_115857.1:p.Val265Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 2 NM_032468.5:c.793G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 2 NP_115857.1:p.Val265Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant 10 NM_001164754.2:c.778G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 10 NP_001158226.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 10 NM_001164754.2:c.778G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 10 NP_001158226.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant 10 NM_001164754.2:c.778G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform 10 NP_001158226.1:p.Val260Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X17 XM_024447159.2:c. N/A Genic Downstream Transcript Variant
ASPH transcript variant X1 XM_017013419.2:c.880G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X1 XP_016868908.1:p.Val294Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X1 XM_017013419.2:c.880G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X1 XP_016868908.1:p.Val294Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X1 XM_017013419.2:c.880G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X1 XP_016868908.1:p.Val294Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X2 XM_017013420.2:c.877G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X2 XP_016868909.1:p.Val293Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X2 XM_017013420.2:c.877G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X2 XP_016868909.1:p.Val293Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X2 XM_017013420.2:c.877G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X2 XP_016868909.1:p.Val293Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X3 XM_017013422.3:c.835G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868911.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X3 XM_017013422.3:c.835G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868911.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X3 XM_017013422.3:c.835G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868911.1:p.Val279Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X4 XM_005251235.3:c.880G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_005251292.1:p.Val294Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X4 XM_005251235.3:c.880G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_005251292.1:p.Val294Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X4 XM_005251235.3:c.880G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_005251292.1:p.Val294Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X5 XM_005251236.3:c.877G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_005251293.1:p.Val293Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X5 XM_005251236.3:c.877G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_005251293.1:p.Val293Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X5 XM_005251236.3:c.877G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_005251293.1:p.Val293Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X3 XM_017013426.2:c.793G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868915.1:p.Val265Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X3 XM_017013426.2:c.793G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868915.1:p.Val265Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X3 XM_017013426.2:c.793G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868915.1:p.Val265Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X4 XM_017013427.2:c.790G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_016868916.1:p.Val264Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X4 XM_017013427.2:c.790G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_016868916.1:p.Val264Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X4 XM_017013427.2:c.790G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_016868916.1:p.Val264Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X8 XM_017013428.3:c.778G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868917.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X8 XM_017013428.3:c.778G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868917.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X8 XM_017013428.3:c.778G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868917.1:p.Val260Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X9 XM_047421785.1:c.838G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_047277741.1:p.Val280Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X9 XM_047421785.1:c.838G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_047277741.1:p.Val280Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X9 XM_047421785.1:c.838G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_047277741.1:p.Val280Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X10 XM_047421786.1:c.880G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_047277742.1:p.Val294Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X10 XM_047421786.1:c.880G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_047277742.1:p.Val294Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X10 XM_047421786.1:c.880G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_047277742.1:p.Val294Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X11 XM_017013429.3:c.832G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_016868918.1:p.Val278Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X11 XM_017013429.3:c.832G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_016868918.1:p.Val278Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X11 XM_017013429.3:c.832G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_016868918.1:p.Val278Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X5 XM_017013430.2:c.751G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_016868919.1:p.Val251Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X5 XM_017013430.2:c.751G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_016868919.1:p.Val251Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X5 XM_017013430.2:c.751G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_016868919.1:p.Val251Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X6 XM_017013431.2:c.748G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X6 XP_016868920.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X6 XM_017013431.2:c.748G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X6 XP_016868920.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X6 XM_017013431.2:c.748G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X6 XP_016868920.1:p.Val250Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X14 XM_005251239.3:c.823G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_005251296.1:p.Val275Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X14 XM_005251239.3:c.823G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_005251296.1:p.Val275Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X14 XM_005251239.3:c.823G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_005251296.1:p.Val275Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X15 XM_017013434.2:c.820G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_016868923.1:p.Val274Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X15 XM_017013434.2:c.820G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_016868923.1:p.Val274Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X15 XM_017013434.2:c.820G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_016868923.1:p.Val274Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X7 XM_017013435.2:c.733G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X7 XP_016868924.1:p.Val245Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X7 XM_017013435.2:c.733G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X7 XP_016868924.1:p.Val245Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X7 XM_017013435.2:c.733G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X7 XP_016868924.1:p.Val245Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X17 XM_005251240.2:c.793G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X17 XP_005251297.1:p.Val265Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X17 XM_005251240.2:c.793G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X17 XP_005251297.1:p.Val265Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X17 XM_005251240.2:c.793G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X17 XP_005251297.1:p.Val265Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X18 XM_047421788.1:c.835G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X18 XP_047277744.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X18 XM_047421788.1:c.835G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X18 XP_047277744.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X18 XM_047421788.1:c.835G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X18 XP_047277744.1:p.Val279Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X19 XM_017013437.3:c.706G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X19 XP_016868926.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X19 XM_017013437.3:c.706G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X19 XP_016868926.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X19 XM_017013437.3:c.706G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X19 XP_016868926.1:p.Val236Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X20 XM_005251242.4:c.778G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X20 XP_005251299.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X20 XM_005251242.4:c.778G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X20 XP_005251299.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X20 XM_005251242.4:c.778G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X20 XP_005251299.1:p.Val260Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X21 XM_047421789.1:c.775G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X21 XP_047277745.1:p.Val259Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X21 XM_047421789.1:c.775G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X21 XP_047277745.1:p.Val259Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X21 XM_047421789.1:c.775G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X21 XP_047277745.1:p.Val259Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X22 XM_005251243.3:c.751G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X22 XP_005251300.1:p.Val251Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X22 XM_005251243.3:c.751G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X22 XP_005251300.1:p.Val251Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X22 XM_005251243.3:c.751G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X22 XP_005251300.1:p.Val251Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X23 XM_017013438.2:c.748G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X23 XP_016868927.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X23 XM_017013438.2:c.748G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X23 XP_016868927.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X23 XM_017013438.2:c.748G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X23 XP_016868927.1:p.Val250Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X8 XM_017013439.2:c.745G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868928.1:p.Val249Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X8 XM_017013439.2:c.745G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868928.1:p.Val249Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X8 XM_017013439.2:c.745G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868928.1:p.Val249Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X9 XM_017013440.2:c.664G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_016868929.1:p.Val222Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X9 XM_017013440.2:c.664G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_016868929.1:p.Val222Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X9 XM_017013440.2:c.664G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_016868929.1:p.Val222Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X10 XM_005251244.2:c.733G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_005251301.1:p.Val245Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X10 XM_005251244.2:c.733G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_005251301.1:p.Val245Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X10 XM_005251244.2:c.733G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_005251301.1:p.Val245Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X27 XM_005251246.4:c.706G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X27 XP_005251303.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X27 XM_005251246.4:c.706G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X27 XP_005251303.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X27 XM_005251246.4:c.706G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X27 XP_005251303.1:p.Val236Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X28 XM_047421790.1:c.703G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X28 XP_047277746.1:p.Val235Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X28 XM_047421790.1:c.703G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X28 XP_047277746.1:p.Val235Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X28 XM_047421790.1:c.703G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X28 XP_047277746.1:p.Val235Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X29 XM_005251247.3:c.694G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X29 XP_005251304.1:p.Val232Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X29 XM_005251247.3:c.694G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X29 XP_005251304.1:p.Val232Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X29 XM_005251247.3:c.694G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X29 XP_005251304.1:p.Val232Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X11 XM_047421791.1:c.691G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_047277747.1:p.Val231Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X11 XM_047421791.1:c.691G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_047277747.1:p.Val231Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X11 XM_047421791.1:c.691G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_047277747.1:p.Val231Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X12 XM_017013444.2:c.619G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X12 XP_016868933.1:p.Val207Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X12 XM_017013444.2:c.619G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X12 XP_016868933.1:p.Val207Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X12 XM_017013444.2:c.619G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X12 XP_016868933.1:p.Val207Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X13 XM_024447157.2:c.835G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X13 XP_024302925.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X13 XM_024447157.2:c.835G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X13 XP_024302925.1:p.Val279Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X13 XM_024447157.2:c.835G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X13 XP_024302925.1:p.Val279Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X14 XM_047421792.1:c.778G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_047277748.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X14 XM_047421792.1:c.778G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_047277748.1:p.Val260Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X14 XM_047421792.1:c.778G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_047277748.1:p.Val260Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X15 XM_024447158.2:c.748G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_024302926.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X15 XM_024447158.2:c.748G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_024302926.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X15 XM_024447158.2:c.748G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_024302926.1:p.Val250Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X16 XM_047421793.1:c.706G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X16 XP_047277749.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X16 XM_047421793.1:c.706G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X16 XP_047277749.1:p.Val236Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X16 XM_047421793.1:c.706G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X16 XP_047277749.1:p.Val236Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X36 XM_017013445.2:c.748G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X36 XP_016868934.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X36 XM_017013445.2:c.748G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X36 XP_016868934.1:p.Val250Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X36 XM_017013445.2:c.748G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X36 XP_016868934.1:p.Val250Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X37 XM_017013446.2:c.691G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X37 XP_016868935.1:p.Val231Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X37 XM_017013446.2:c.691G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X37 XP_016868935.1:p.Val231Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X37 XM_017013446.2:c.691G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X37 XP_016868935.1:p.Val231Ile V (Val) > I (Ile) Missense Variant
ASPH transcript variant X38 XM_017013447.2:c.619G>T V [GTA] > L [TTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X38 XP_016868936.1:p.Val207Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X38 XM_017013447.2:c.619G>C V [GTA] > L [CTA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X38 XP_016868936.1:p.Val207Leu V (Val) > L (Leu) Missense Variant
ASPH transcript variant X38 XM_017013447.2:c.619G>A V [GTA] > I [ATA] Coding Sequence Variant
aspartyl/asparaginyl beta-hydroxylase isoform X38 XP_016868936.1:p.Val207Ile V (Val) > I (Ile) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A G T
GRCh38.p14 chr 8 NC_000008.11:g.61638001= NC_000008.11:g.61638001C>A NC_000008.11:g.61638001C>G NC_000008.11:g.61638001C>T
GRCh37.p13 chr 8 NC_000008.10:g.62550560= NC_000008.10:g.62550560C>A NC_000008.10:g.62550560C>G NC_000008.10:g.62550560C>T
ASPH RefSeqGene NG_013210.1:g.81640= NG_013210.1:g.81640G>T NG_013210.1:g.81640G>C NG_013210.1:g.81640G>A
ASPH transcript variant 2 NM_032468.5:c.793= NM_032468.5:c.793G>T NM_032468.5:c.793G>C NM_032468.5:c.793G>A
ASPH transcript variant 2 NM_032468.4:c.793= NM_032468.4:c.793G>T NM_032468.4:c.793G>C NM_032468.4:c.793G>A
ASPH transcript variant 1 NM_004318.4:c.835= NM_004318.4:c.835G>T NM_004318.4:c.835G>C NM_004318.4:c.835G>A
ASPH transcript variant 1 NM_004318.3:c.835= NM_004318.3:c.835G>T NM_004318.3:c.835G>C NM_004318.3:c.835G>A
ASPH transcript variant 3 NM_032466.4:c.835= NM_032466.4:c.835G>T NM_032466.4:c.835G>C NM_032466.4:c.835G>A
ASPH transcript variant 3 NM_032466.3:c.835= NM_032466.3:c.835G>T NM_032466.3:c.835G>C NM_032466.3:c.835G>A
ASPH transcript variant 6 NM_001164750.2:c.748= NM_001164750.2:c.748G>T NM_001164750.2:c.748G>C NM_001164750.2:c.748G>A
ASPH transcript variant 6 NM_001164750.1:c.748= NM_001164750.1:c.748G>T NM_001164750.1:c.748G>C NM_001164750.1:c.748G>A
ASPH transcript variant 10 NM_001164754.2:c.778= NM_001164754.2:c.778G>T NM_001164754.2:c.778G>C NM_001164754.2:c.778G>A
ASPH transcript variant 10 NM_001164754.1:c.778= NM_001164754.1:c.778G>T NM_001164754.1:c.778G>C NM_001164754.1:c.778G>A
ASPH transcript variant 11 NM_001164755.2:c.706= NM_001164755.2:c.706G>T NM_001164755.2:c.706G>C NM_001164755.2:c.706G>A
ASPH transcript variant 11 NM_001164755.1:c.706= NM_001164755.1:c.706G>T NM_001164755.1:c.706G>C NM_001164755.1:c.706G>A
ASPH transcript variant 7 NM_001164751.2:c.790= NM_001164751.2:c.790G>T NM_001164751.2:c.790G>C NM_001164751.2:c.790G>A
ASPH transcript variant 7 NM_001164751.1:c.790= NM_001164751.1:c.790G>T NM_001164751.1:c.790G>C NM_001164751.1:c.790G>A
ASPH transcript variant 8 NM_001164752.2:c.733= NM_001164752.2:c.733G>T NM_001164752.2:c.733G>C NM_001164752.2:c.733G>A
ASPH transcript variant 8 NM_001164752.1:c.733= NM_001164752.1:c.733G>T NM_001164752.1:c.733G>C NM_001164752.1:c.733G>A
ASPH transcript variant 9 NM_001164753.2:c.664= NM_001164753.2:c.664G>T NM_001164753.2:c.664G>C NM_001164753.2:c.664G>A
ASPH transcript variant 9 NM_001164753.1:c.664= NM_001164753.1:c.664G>T NM_001164753.1:c.664G>C NM_001164753.1:c.664G>A
ASPH transcript variant X20 XM_005251242.4:c.778= XM_005251242.4:c.778G>T XM_005251242.4:c.778G>C XM_005251242.4:c.778G>A
ASPH transcript variant X22 XM_005251242.3:c.778= XM_005251242.3:c.778G>T XM_005251242.3:c.778G>C XM_005251242.3:c.778G>A
ASPH transcript variant X25 XM_005251242.2:c.778= XM_005251242.2:c.778G>T XM_005251242.2:c.778G>C XM_005251242.2:c.778G>A
ASPH transcript variant X8 XM_005251242.1:c.778= XM_005251242.1:c.778G>T XM_005251242.1:c.778G>C XM_005251242.1:c.778G>A
ASPH transcript variant X27 XM_005251246.4:c.706= XM_005251246.4:c.706G>T XM_005251246.4:c.706G>C XM_005251246.4:c.706G>A
ASPH transcript variant X30 XM_005251246.3:c.706= XM_005251246.3:c.706G>T XM_005251246.3:c.706G>C XM_005251246.3:c.706G>A
ASPH transcript variant X31 XM_005251246.2:c.706= XM_005251246.2:c.706G>T XM_005251246.2:c.706G>C XM_005251246.2:c.706G>A
ASPH transcript variant X12 XM_005251246.1:c.706= XM_005251246.1:c.706G>T XM_005251246.1:c.706G>C XM_005251246.1:c.706G>A
ASPH transcript variant X3 XM_017013422.3:c.835= XM_017013422.3:c.835G>T XM_017013422.3:c.835G>C XM_017013422.3:c.835G>A
ASPH transcript variant X4 XM_017013422.2:c.835= XM_017013422.2:c.835G>T XM_017013422.2:c.835G>C XM_017013422.2:c.835G>A
ASPH transcript variant X4 XM_017013422.1:c.835= XM_017013422.1:c.835G>T XM_017013422.1:c.835G>C XM_017013422.1:c.835G>A
ASPH transcript variant X4 XM_005251235.3:c.880= XM_005251235.3:c.880G>T XM_005251235.3:c.880G>C XM_005251235.3:c.880G>A
ASPH transcript variant X7 XM_005251235.2:c.880= XM_005251235.2:c.880G>T XM_005251235.2:c.880G>C XM_005251235.2:c.880G>A
ASPH transcript variant X1 XM_005251235.1:c.880= XM_005251235.1:c.880G>T XM_005251235.1:c.880G>C XM_005251235.1:c.880G>A
ASPH transcript variant X5 XM_005251236.3:c.877= XM_005251236.3:c.877G>T XM_005251236.3:c.877G>C XM_005251236.3:c.877G>A
ASPH transcript variant X8 XM_005251236.2:c.877= XM_005251236.2:c.877G>T XM_005251236.2:c.877G>C XM_005251236.2:c.877G>A
ASPH transcript variant X2 XM_005251236.1:c.877= XM_005251236.1:c.877G>T XM_005251236.1:c.877G>C XM_005251236.1:c.877G>A
ASPH transcript variant X8 XM_017013428.3:c.778= XM_017013428.3:c.778G>T XM_017013428.3:c.778G>C XM_017013428.3:c.778G>A
ASPH transcript variant X11 XM_017013428.2:c.778= XM_017013428.2:c.778G>T XM_017013428.2:c.778G>C XM_017013428.2:c.778G>A
ASPH transcript variant X12 XM_017013428.1:c.778= XM_017013428.1:c.778G>T XM_017013428.1:c.778G>C XM_017013428.1:c.778G>A
ASPH transcript variant X11 XM_017013429.3:c.832= XM_017013429.3:c.832G>T XM_017013429.3:c.832G>C XM_017013429.3:c.832G>A
ASPH transcript variant X12 XM_017013429.2:c.832= XM_017013429.2:c.832G>T XM_017013429.2:c.832G>C XM_017013429.2:c.832G>A
ASPH transcript variant X14 XM_017013429.1:c.832= XM_017013429.1:c.832G>T XM_017013429.1:c.832G>C XM_017013429.1:c.832G>A
ASPH transcript variant X14 XM_005251239.3:c.823= XM_005251239.3:c.823G>T XM_005251239.3:c.823G>C XM_005251239.3:c.823G>A
ASPH transcript variant X17 XM_005251239.2:c.823= XM_005251239.2:c.823G>T XM_005251239.2:c.823G>C XM_005251239.2:c.823G>A
ASPH transcript variant X4 XM_005251239.1:c.823= XM_005251239.1:c.823G>T XM_005251239.1:c.823G>C XM_005251239.1:c.823G>A
ASPH transcript variant X19 XM_017013437.3:c.706= XM_017013437.3:c.706G>T XM_017013437.3:c.706G>C XM_017013437.3:c.706G>A
ASPH transcript variant X21 XM_017013437.2:c.706= XM_017013437.2:c.706G>T XM_017013437.2:c.706G>C XM_017013437.2:c.706G>A
ASPH transcript variant X24 XM_017013437.1:c.706= XM_017013437.1:c.706G>T XM_017013437.1:c.706G>C XM_017013437.1:c.706G>A
ASPH transcript variant X22 XM_005251243.3:c.751= XM_005251243.3:c.751G>T XM_005251243.3:c.751G>C XM_005251243.3:c.751G>A
ASPH transcript variant X25 XM_005251243.2:c.751= XM_005251243.2:c.751G>T XM_005251243.2:c.751G>C XM_005251243.2:c.751G>A
ASPH transcript variant X9 XM_005251243.1:c.751= XM_005251243.1:c.751G>T XM_005251243.1:c.751G>C XM_005251243.1:c.751G>A
ASPH transcript variant X29 XM_005251247.3:c.694= XM_005251247.3:c.694G>T XM_005251247.3:c.694G>C XM_005251247.3:c.694G>A
ASPH transcript variant X31 XM_005251247.2:c.694= XM_005251247.2:c.694G>T XM_005251247.2:c.694G>C XM_005251247.2:c.694G>A
ASPH transcript variant X12 XM_005251247.1:c.694= XM_005251247.1:c.694G>T XM_005251247.1:c.694G>C XM_005251247.1:c.694G>A
ASPH transcript variant X1 XM_017013419.2:c.880= XM_017013419.2:c.880G>T XM_017013419.2:c.880G>C XM_017013419.2:c.880G>A
ASPH transcript variant X1 XM_017013419.1:c.880= XM_017013419.1:c.880G>T XM_017013419.1:c.880G>C XM_017013419.1:c.880G>A
ASPH transcript variant X2 XM_017013420.2:c.877= XM_017013420.2:c.877G>T XM_017013420.2:c.877G>C XM_017013420.2:c.877G>A
ASPH transcript variant X2 XM_017013420.1:c.877= XM_017013420.1:c.877G>T XM_017013420.1:c.877G>C XM_017013420.1:c.877G>A
ASPH transcript variant X5 XM_017013430.2:c.751= XM_017013430.2:c.751G>T XM_017013430.2:c.751G>C XM_017013430.2:c.751G>A
ASPH transcript variant X13 XM_017013430.1:c.751= XM_017013430.1:c.751G>T XM_017013430.1:c.751G>C XM_017013430.1:c.751G>A
ASPH transcript variant X15 XM_017013434.2:c.820= XM_017013434.2:c.820G>T XM_017013434.2:c.820G>C XM_017013434.2:c.820G>A
ASPH transcript variant X18 XM_017013434.1:c.820= XM_017013434.1:c.820G>T XM_017013434.1:c.820G>C XM_017013434.1:c.820G>A
ASPH transcript variant X3 XM_017013426.2:c.793= XM_017013426.2:c.793G>T XM_017013426.2:c.793G>C XM_017013426.2:c.793G>A
ASPH transcript variant X9 XM_017013426.1:c.793= XM_017013426.1:c.793G>T XM_017013426.1:c.793G>C XM_017013426.1:c.793G>A
ASPH transcript variant X4 XM_017013427.2:c.790= XM_017013427.2:c.790G>T XM_017013427.2:c.790G>C XM_017013427.2:c.790G>A
ASPH transcript variant X10 XM_017013427.1:c.790= XM_017013427.1:c.790G>T XM_017013427.1:c.790G>C XM_017013427.1:c.790G>A
ASPH transcript variant X23 XM_017013438.2:c.748= XM_017013438.2:c.748G>T XM_017013438.2:c.748G>C XM_017013438.2:c.748G>A
ASPH transcript variant X26 XM_017013438.1:c.748= XM_017013438.1:c.748G>T XM_017013438.1:c.748G>C XM_017013438.1:c.748G>A
ASPH transcript variant X6 XM_017013431.2:c.748= XM_017013431.2:c.748G>T XM_017013431.2:c.748G>C XM_017013431.2:c.748G>A
ASPH transcript variant X14 XM_017013431.1:c.748= XM_017013431.1:c.748G>T XM_017013431.1:c.748G>C XM_017013431.1:c.748G>A
ASPH transcript variant X7 XM_017013435.2:c.733= XM_017013435.2:c.733G>T XM_017013435.2:c.733G>C XM_017013435.2:c.733G>A
ASPH transcript variant X19 XM_017013435.1:c.733= XM_017013435.1:c.733G>T XM_017013435.1:c.733G>C XM_017013435.1:c.733G>A
ASPH transcript variant X17 XM_005251240.2:c.793= XM_005251240.2:c.793G>T XM_005251240.2:c.793G>C XM_005251240.2:c.793G>A
ASPH transcript variant X20 XM_005251240.1:c.793= XM_005251240.1:c.793G>T XM_005251240.1:c.793G>C XM_005251240.1:c.793G>A
ASPH transcript variant X9 XM_017013440.2:c.664= XM_017013440.2:c.664G>T XM_017013440.2:c.664G>C XM_017013440.2:c.664G>A
ASPH transcript variant X28 XM_017013440.1:c.664= XM_017013440.1:c.664G>T XM_017013440.1:c.664G>C XM_017013440.1:c.664G>A
ASPH transcript variant X8 XM_017013439.2:c.745= XM_017013439.2:c.745G>T XM_017013439.2:c.745G>C XM_017013439.2:c.745G>A
ASPH transcript variant X27 XM_017013439.1:c.745= XM_017013439.1:c.745G>T XM_017013439.1:c.745G>C XM_017013439.1:c.745G>A
ASPH transcript variant X10 XM_005251244.2:c.733= XM_005251244.2:c.733G>T XM_005251244.2:c.733G>C XM_005251244.2:c.733G>A
ASPH transcript variant X29 XM_005251244.1:c.733= XM_005251244.1:c.733G>T XM_005251244.1:c.733G>C XM_005251244.1:c.733G>A
ASPH transcript variant X12 XM_017013444.2:c.619= XM_017013444.2:c.619G>T XM_017013444.2:c.619G>C XM_017013444.2:c.619G>A
ASPH transcript variant X32 XM_017013444.1:c.619= XM_017013444.1:c.619G>T XM_017013444.1:c.619G>C XM_017013444.1:c.619G>A
ASPH transcript variant X36 XM_017013445.2:c.748= XM_017013445.2:c.748G>T XM_017013445.2:c.748G>C XM_017013445.2:c.748G>A
ASPH transcript variant X35 XM_017013445.1:c.748= XM_017013445.1:c.748G>T XM_017013445.1:c.748G>C XM_017013445.1:c.748G>A
ASPH transcript variant X37 XM_017013446.2:c.691= XM_017013446.2:c.691G>T XM_017013446.2:c.691G>C XM_017013446.2:c.691G>A
ASPH transcript variant X36 XM_017013446.1:c.691= XM_017013446.1:c.691G>T XM_017013446.1:c.691G>C XM_017013446.1:c.691G>A
ASPH transcript variant X38 XM_017013447.2:c.619= XM_017013447.2:c.619G>T XM_017013447.2:c.619G>C XM_017013447.2:c.619G>A
ASPH transcript variant X37 XM_017013447.1:c.619= XM_017013447.1:c.619G>T XM_017013447.1:c.619G>C XM_017013447.1:c.619G>A
ASPH transcript variant X13 XM_024447157.2:c.835= XM_024447157.2:c.835G>T XM_024447157.2:c.835G>C XM_024447157.2:c.835G>A
ASPH transcript variant X33 XM_024447157.1:c.835= XM_024447157.1:c.835G>T XM_024447157.1:c.835G>C XM_024447157.1:c.835G>A
ASPH transcript variant X15 XM_024447158.2:c.748= XM_024447158.2:c.748G>T XM_024447158.2:c.748G>C XM_024447158.2:c.748G>A
ASPH transcript variant X34 XM_024447158.1:c.748= XM_024447158.1:c.748G>T XM_024447158.1:c.748G>C XM_024447158.1:c.748G>A
ASPH transcript variant X9 XM_047421785.1:c.838= XM_047421785.1:c.838G>T XM_047421785.1:c.838G>C XM_047421785.1:c.838G>A
ASPH transcript variant X10 XM_047421786.1:c.880= XM_047421786.1:c.880G>T XM_047421786.1:c.880G>C XM_047421786.1:c.880G>A
ASPH transcript variant X18 XM_047421788.1:c.835= XM_047421788.1:c.835G>T XM_047421788.1:c.835G>C XM_047421788.1:c.835G>A
ASPH transcript variant X21 XM_047421789.1:c.775= XM_047421789.1:c.775G>T XM_047421789.1:c.775G>C XM_047421789.1:c.775G>A
ASPH transcript variant X28 XM_047421790.1:c.703= XM_047421790.1:c.703G>T XM_047421790.1:c.703G>C XM_047421790.1:c.703G>A
ASPH transcript variant X11 XM_047421791.1:c.691= XM_047421791.1:c.691G>T XM_047421791.1:c.691G>C XM_047421791.1:c.691G>A
ASPH transcript variant X14 XM_047421792.1:c.778= XM_047421792.1:c.778G>T XM_047421792.1:c.778G>C XM_047421792.1:c.778G>A
ASPH transcript variant X16 XM_047421793.1:c.706= XM_047421793.1:c.706G>T XM_047421793.1:c.706G>C XM_047421793.1:c.706G>A
aspartyl/asparaginyl beta-hydroxylase isoform 2 NP_115857.1:p.Val265= NP_115857.1:p.Val265Leu NP_115857.1:p.Val265Leu NP_115857.1:p.Val265Ile
aspartyl/asparaginyl beta-hydroxylase isoform 1 NP_004309.2:p.Val279= NP_004309.2:p.Val279Leu NP_004309.2:p.Val279Leu NP_004309.2:p.Val279Ile
aspartyl/asparaginyl beta-hydroxylase isoform 3 NP_115855.1:p.Val279= NP_115855.1:p.Val279Leu NP_115855.1:p.Val279Leu NP_115855.1:p.Val279Ile
aspartyl/asparaginyl beta-hydroxylase isoform 6 NP_001158222.1:p.Val250= NP_001158222.1:p.Val250Leu NP_001158222.1:p.Val250Leu NP_001158222.1:p.Val250Ile
aspartyl/asparaginyl beta-hydroxylase isoform 10 NP_001158226.1:p.Val260= NP_001158226.1:p.Val260Leu NP_001158226.1:p.Val260Leu NP_001158226.1:p.Val260Ile
aspartyl/asparaginyl beta-hydroxylase isoform 11 NP_001158227.1:p.Val236= NP_001158227.1:p.Val236Leu NP_001158227.1:p.Val236Leu NP_001158227.1:p.Val236Ile
aspartyl/asparaginyl beta-hydroxylase isoform 7 NP_001158223.1:p.Val264= NP_001158223.1:p.Val264Leu NP_001158223.1:p.Val264Leu NP_001158223.1:p.Val264Ile
aspartyl/asparaginyl beta-hydroxylase isoform 8 NP_001158224.1:p.Val245= NP_001158224.1:p.Val245Leu NP_001158224.1:p.Val245Leu NP_001158224.1:p.Val245Ile
aspartyl/asparaginyl beta-hydroxylase isoform 9 NP_001158225.1:p.Val222= NP_001158225.1:p.Val222Leu NP_001158225.1:p.Val222Leu NP_001158225.1:p.Val222Ile
aspartyl/asparaginyl beta-hydroxylase isoform X20 XP_005251299.1:p.Val260= XP_005251299.1:p.Val260Leu XP_005251299.1:p.Val260Leu XP_005251299.1:p.Val260Ile
aspartyl/asparaginyl beta-hydroxylase isoform X27 XP_005251303.1:p.Val236= XP_005251303.1:p.Val236Leu XP_005251303.1:p.Val236Leu XP_005251303.1:p.Val236Ile
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868911.1:p.Val279= XP_016868911.1:p.Val279Leu XP_016868911.1:p.Val279Leu XP_016868911.1:p.Val279Ile
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_005251292.1:p.Val294= XP_005251292.1:p.Val294Leu XP_005251292.1:p.Val294Leu XP_005251292.1:p.Val294Ile
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_005251293.1:p.Val293= XP_005251293.1:p.Val293Leu XP_005251293.1:p.Val293Leu XP_005251293.1:p.Val293Ile
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868917.1:p.Val260= XP_016868917.1:p.Val260Leu XP_016868917.1:p.Val260Leu XP_016868917.1:p.Val260Ile
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_016868918.1:p.Val278= XP_016868918.1:p.Val278Leu XP_016868918.1:p.Val278Leu XP_016868918.1:p.Val278Ile
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_005251296.1:p.Val275= XP_005251296.1:p.Val275Leu XP_005251296.1:p.Val275Leu XP_005251296.1:p.Val275Ile
aspartyl/asparaginyl beta-hydroxylase isoform X19 XP_016868926.1:p.Val236= XP_016868926.1:p.Val236Leu XP_016868926.1:p.Val236Leu XP_016868926.1:p.Val236Ile
aspartyl/asparaginyl beta-hydroxylase isoform X22 XP_005251300.1:p.Val251= XP_005251300.1:p.Val251Leu XP_005251300.1:p.Val251Leu XP_005251300.1:p.Val251Ile
aspartyl/asparaginyl beta-hydroxylase isoform X29 XP_005251304.1:p.Val232= XP_005251304.1:p.Val232Leu XP_005251304.1:p.Val232Leu XP_005251304.1:p.Val232Ile
aspartyl/asparaginyl beta-hydroxylase isoform X1 XP_016868908.1:p.Val294= XP_016868908.1:p.Val294Leu XP_016868908.1:p.Val294Leu XP_016868908.1:p.Val294Ile
aspartyl/asparaginyl beta-hydroxylase isoform X2 XP_016868909.1:p.Val293= XP_016868909.1:p.Val293Leu XP_016868909.1:p.Val293Leu XP_016868909.1:p.Val293Ile
aspartyl/asparaginyl beta-hydroxylase isoform X5 XP_016868919.1:p.Val251= XP_016868919.1:p.Val251Leu XP_016868919.1:p.Val251Leu XP_016868919.1:p.Val251Ile
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_016868923.1:p.Val274= XP_016868923.1:p.Val274Leu XP_016868923.1:p.Val274Leu XP_016868923.1:p.Val274Ile
aspartyl/asparaginyl beta-hydroxylase isoform X3 XP_016868915.1:p.Val265= XP_016868915.1:p.Val265Leu XP_016868915.1:p.Val265Leu XP_016868915.1:p.Val265Ile
aspartyl/asparaginyl beta-hydroxylase isoform X4 XP_016868916.1:p.Val264= XP_016868916.1:p.Val264Leu XP_016868916.1:p.Val264Leu XP_016868916.1:p.Val264Ile
aspartyl/asparaginyl beta-hydroxylase isoform X23 XP_016868927.1:p.Val250= XP_016868927.1:p.Val250Leu XP_016868927.1:p.Val250Leu XP_016868927.1:p.Val250Ile
aspartyl/asparaginyl beta-hydroxylase isoform X6 XP_016868920.1:p.Val250= XP_016868920.1:p.Val250Leu XP_016868920.1:p.Val250Leu XP_016868920.1:p.Val250Ile
aspartyl/asparaginyl beta-hydroxylase isoform X7 XP_016868924.1:p.Val245= XP_016868924.1:p.Val245Leu XP_016868924.1:p.Val245Leu XP_016868924.1:p.Val245Ile
aspartyl/asparaginyl beta-hydroxylase isoform X17 XP_005251297.1:p.Val265= XP_005251297.1:p.Val265Leu XP_005251297.1:p.Val265Leu XP_005251297.1:p.Val265Ile
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_016868929.1:p.Val222= XP_016868929.1:p.Val222Leu XP_016868929.1:p.Val222Leu XP_016868929.1:p.Val222Ile
aspartyl/asparaginyl beta-hydroxylase isoform X8 XP_016868928.1:p.Val249= XP_016868928.1:p.Val249Leu XP_016868928.1:p.Val249Leu XP_016868928.1:p.Val249Ile
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_005251301.1:p.Val245= XP_005251301.1:p.Val245Leu XP_005251301.1:p.Val245Leu XP_005251301.1:p.Val245Ile
aspartyl/asparaginyl beta-hydroxylase isoform X12 XP_016868933.1:p.Val207= XP_016868933.1:p.Val207Leu XP_016868933.1:p.Val207Leu XP_016868933.1:p.Val207Ile
aspartyl/asparaginyl beta-hydroxylase isoform X36 XP_016868934.1:p.Val250= XP_016868934.1:p.Val250Leu XP_016868934.1:p.Val250Leu XP_016868934.1:p.Val250Ile
aspartyl/asparaginyl beta-hydroxylase isoform X37 XP_016868935.1:p.Val231= XP_016868935.1:p.Val231Leu XP_016868935.1:p.Val231Leu XP_016868935.1:p.Val231Ile
aspartyl/asparaginyl beta-hydroxylase isoform X38 XP_016868936.1:p.Val207= XP_016868936.1:p.Val207Leu XP_016868936.1:p.Val207Leu XP_016868936.1:p.Val207Ile
aspartyl/asparaginyl beta-hydroxylase isoform X13 XP_024302925.1:p.Val279= XP_024302925.1:p.Val279Leu XP_024302925.1:p.Val279Leu XP_024302925.1:p.Val279Ile
aspartyl/asparaginyl beta-hydroxylase isoform X15 XP_024302926.1:p.Val250= XP_024302926.1:p.Val250Leu XP_024302926.1:p.Val250Leu XP_024302926.1:p.Val250Ile
aspartyl/asparaginyl beta-hydroxylase isoform X9 XP_047277741.1:p.Val280= XP_047277741.1:p.Val280Leu XP_047277741.1:p.Val280Leu XP_047277741.1:p.Val280Ile
aspartyl/asparaginyl beta-hydroxylase isoform X10 XP_047277742.1:p.Val294= XP_047277742.1:p.Val294Leu XP_047277742.1:p.Val294Leu XP_047277742.1:p.Val294Ile
aspartyl/asparaginyl beta-hydroxylase isoform X18 XP_047277744.1:p.Val279= XP_047277744.1:p.Val279Leu XP_047277744.1:p.Val279Leu XP_047277744.1:p.Val279Ile
aspartyl/asparaginyl beta-hydroxylase isoform X21 XP_047277745.1:p.Val259= XP_047277745.1:p.Val259Leu XP_047277745.1:p.Val259Leu XP_047277745.1:p.Val259Ile
aspartyl/asparaginyl beta-hydroxylase isoform X28 XP_047277746.1:p.Val235= XP_047277746.1:p.Val235Leu XP_047277746.1:p.Val235Leu XP_047277746.1:p.Val235Ile
aspartyl/asparaginyl beta-hydroxylase isoform X11 XP_047277747.1:p.Val231= XP_047277747.1:p.Val231Leu XP_047277747.1:p.Val231Leu XP_047277747.1:p.Val231Ile
aspartyl/asparaginyl beta-hydroxylase isoform X14 XP_047277748.1:p.Val260= XP_047277748.1:p.Val260Leu XP_047277748.1:p.Val260Leu XP_047277748.1:p.Val260Ile
aspartyl/asparaginyl beta-hydroxylase isoform X16 XP_047277749.1:p.Val236= XP_047277749.1:p.Val236Leu XP_047277749.1:p.Val236Leu XP_047277749.1:p.Val236Ile
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2737178207 Nov 08, 2017 (151)
2 TOPMED ss4788308304 Apr 26, 2021 (155)
3 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6350211 (NC_000008.10:62550559:C:C 241589/241590, NC_000008.10:62550559:C:A 1/241590)
Row 6350212 (NC_000008.10:62550559:C:C 241589/241590, NC_000008.10:62550559:C:G 1/241590)

- Jul 13, 2019 (153)
4 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6350211 (NC_000008.10:62550559:C:C 241589/241590, NC_000008.10:62550559:C:A 1/241590)
Row 6350212 (NC_000008.10:62550559:C:C 241589/241590, NC_000008.10:62550559:C:G 1/241590)

- Jul 13, 2019 (153)
5 TopMed NC_000008.11 - 61638001 Apr 26, 2021 (155)
6 ALFA NC_000008.11 - 61638001 Apr 26, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2737178207 NC_000008.10:62550559:C:A NC_000008.11:61638000:C:A (self)
ss2737178207 NC_000008.10:62550559:C:G NC_000008.11:61638000:C:G (self)
7573648224 NC_000008.11:61638000:C:G NC_000008.11:61638000:C:G (self)
625685864, 7573648224, ss4788308304 NC_000008.11:61638000:C:T NC_000008.11:61638000:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1477784606

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d