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dbSNP Short Genetic Variations

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.

rs1477506283

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:47760304 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000023 (6/264690, TOPMED)
G=0.000004 (1/250080, GnomAD_exome)
C=0.00000 (0/14050, ALFA) (+ 1 more)
G=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SEMA6D : 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 14050 A=1.00000 C=0.00000, G=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 A=1.0000 C=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 A=1.0000 C=0.0000, G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 A=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 A=1.0000 C=0.0000, G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 A=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 A=1.00 C=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 A=1.00 C=0.00, G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 A=1.00 C=0.00, G=0.00 1.0 0.0 0.0 N/A
Other Sub 496 A=1.000 C=0.000, G=0.000 1.0 0.0 0.0 N/A


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 A=0.999977 G=0.000023
gnomAD - Exomes Global Study-wide 250080 A=0.999996 G=0.000004
gnomAD - Exomes European Sub 134452 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 48828 A=1.00000 G=0.00000
gnomAD - Exomes American Sub 34432 A=0.99997 G=0.00003
gnomAD - Exomes African Sub 16248 A=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10036 A=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6084 A=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 14050 A=1.00000 C=0.00000, G=0.00000
Allele Frequency Aggregator European Sub 9690 A=1.0000 C=0.0000, G=0.0000
Allele Frequency Aggregator African Sub 2898 A=1.0000 C=0.0000, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Other Sub 496 A=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 112 A=1.000 C=0.000, G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 C=0.00, G=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 15 NC_000015.10:g.47760304A>C
GRCh38.p14 chr 15 NC_000015.10:g.47760304A>G
GRCh37.p13 chr 15 NC_000015.9:g.48052501A>C
GRCh37.p13 chr 15 NC_000015.9:g.48052501A>G
SEMA6D RefSeqGene NG_029119.2:g.581099A>C
SEMA6D RefSeqGene NG_029119.2:g.581099A>G
Gene: SEMA6D, semaphorin 6D (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SEMA6D transcript variant 5 NM_153619.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 5 precursor NP_705872.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 5 NM_153619.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 5 precursor NP_705872.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 6 NM_024966.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 6 precursor NP_079242.2:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 6 NM_024966.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 6 precursor NP_079242.2:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 4 NM_153618.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 4 precursor NP_705871.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 4 NM_153618.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 4 precursor NP_705871.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 9 NM_001358352.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 7 precursor NP_001345281.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 9 NM_001358352.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 7 precursor NP_001345281.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 7 NM_001198999.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 1 precursor NP_001185928.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 7 NM_001198999.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 1 precursor NP_001185928.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 1 NM_020858.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 1 precursor NP_065909.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 1 NM_020858.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 1 precursor NP_065909.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 3 NM_153617.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 3 precursor NP_705870.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 3 NM_153617.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 3 precursor NP_705870.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 2 NM_153616.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 2 precursor NP_705869.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 2 NM_153616.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 2 precursor NP_705869.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant 8 NM_001358351.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform 4 precursor NP_001345280.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant 8 NM_001358351.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform 4 precursor NP_001345280.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X1 XM_047433106.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289062.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X1 XM_047433106.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289062.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X2 XM_047433107.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289063.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X2 XM_047433107.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289063.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X3 XM_047433108.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289064.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X3 XM_047433108.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289064.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X4 XM_047433109.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289065.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X4 XM_047433109.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289065.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X5 XM_017022617.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_016878106.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X5 XM_017022617.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_016878106.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X6 XM_011522075.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_011520377.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X6 XM_011522075.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_011520377.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X7 XM_047433110.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289066.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X7 XM_047433110.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289066.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X8 XM_024450074.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_024305842.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X8 XM_024450074.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_024305842.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X9 XM_024450073.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_024305841.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X9 XM_024450073.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_024305841.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X10 XM_024450075.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_024305843.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X10 XM_024450075.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_024305843.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X11 XM_047433111.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289067.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X11 XM_047433111.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289067.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X12 XM_047433112.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289068.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X12 XM_047433112.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289068.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X13 XM_047433113.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289069.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X13 XM_047433113.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X1 XP_047289069.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X14 XM_047433114.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289070.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X14 XM_047433114.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289070.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X15 XM_047433115.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289071.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X15 XM_047433115.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289071.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X16 XM_047433116.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289072.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X16 XM_047433116.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289072.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X17 XM_047433117.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289073.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X17 XM_047433117.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289073.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X18 XM_047433118.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289074.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X18 XM_047433118.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289074.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X19 XM_047433119.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289075.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X19 XM_047433119.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289075.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X20 XM_047433120.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289076.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X20 XM_047433120.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289076.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X21 XM_047433121.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289077.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X21 XM_047433121.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289077.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X22 XM_047433122.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289078.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X22 XM_047433122.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X2 XP_047289078.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X23 XM_011522076.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_011520378.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X23 XM_011522076.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_011520378.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X24 XM_047433123.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_047289079.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X24 XM_047433123.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_047289079.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X25 XM_047433124.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_047289080.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X25 XM_047433124.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_047289080.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X26 XM_047433125.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_047289081.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X26 XM_047433125.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X3 XP_047289081.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X27 XM_011522077.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_011520379.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X27 XM_011522077.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_011520379.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X28 XM_047433126.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289082.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X28 XM_047433126.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289082.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X29 XM_047433127.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289083.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X29 XM_047433127.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289083.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X30 XM_047433128.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289084.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X30 XM_047433128.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289084.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X31 XM_047433129.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289085.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X31 XM_047433129.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X4 XP_047289085.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X32 XM_011522078.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X5 XP_011520380.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X32 XM_011522078.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X5 XP_011520380.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X33 XM_047433130.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X5 XP_047289086.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X33 XM_047433130.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X5 XP_047289086.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X34 XM_011522079.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_011520381.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X34 XM_011522079.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_011520381.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X35 XM_047433132.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_047289088.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X35 XM_047433132.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_047289088.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X36 XM_047433133.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_047289089.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X36 XM_047433133.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_047289089.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X37 XM_017022620.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_016878109.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X37 XM_017022620.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X6 XP_016878109.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X38 XM_011522080.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_011520382.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X38 XM_011522080.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_011520382.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X39 XM_047433134.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_047289090.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X39 XM_047433134.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_047289090.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X40 XM_047433135.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_047289091.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X40 XM_047433135.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_047289091.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X41 XM_024450076.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_024305844.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X41 XM_024450076.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X7 XP_024305844.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X42 XM_011522081.3:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_011520383.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X42 XM_011522081.3:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_011520383.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X43 XM_047433136.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289092.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X43 XM_047433136.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289092.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X44 XM_047433137.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289093.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X44 XM_047433137.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289093.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X45 XM_047433138.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289094.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X45 XM_047433138.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289094.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X46 XM_047433139.1:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289095.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X46 XM_047433139.1:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_047289095.1:p.Tyr37Cys Y (Tyr) > C (Cys) Missense Variant
SEMA6D transcript variant X47 XM_017022621.2:c.110A>C Y [TAT] > S [TCT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_016878110.1:p.Tyr37Ser Y (Tyr) > S (Ser) Missense Variant
SEMA6D transcript variant X47 XM_017022621.2:c.110A>G Y [TAT] > C [TGT] Coding Sequence Variant
semaphorin-6D isoform X8 XP_016878110.1:p.Tyr37Cys Y (Tyr) > C (Cys) 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 A= C G
GRCh38.p14 chr 15 NC_000015.10:g.47760304= NC_000015.10:g.47760304A>C NC_000015.10:g.47760304A>G
GRCh37.p13 chr 15 NC_000015.9:g.48052501= NC_000015.9:g.48052501A>C NC_000015.9:g.48052501A>G
SEMA6D RefSeqGene NG_029119.2:g.581099= NG_029119.2:g.581099A>C NG_029119.2:g.581099A>G
SEMA6D transcript variant 8 NM_001358351.3:c.110= NM_001358351.3:c.110A>C NM_001358351.3:c.110A>G
SEMA6D transcript variant 8 NM_001358351.2:c.110= NM_001358351.2:c.110A>C NM_001358351.2:c.110A>G
SEMA6D transcript variant 8 NM_001358351.1:c.110= NM_001358351.1:c.110A>C NM_001358351.1:c.110A>G
SEMA6D transcript variant 6 NM_024966.3:c.110= NM_024966.3:c.110A>C NM_024966.3:c.110A>G
SEMA6D transcript variant 6 NM_024966.2:c.110= NM_024966.2:c.110A>C NM_024966.2:c.110A>G
SEMA6D transcript variant 4 NM_153618.2:c.110= NM_153618.2:c.110A>C NM_153618.2:c.110A>G
SEMA6D transcript variant 4 NM_153618.1:c.110= NM_153618.1:c.110A>C NM_153618.1:c.110A>G
SEMA6D transcript variant 3 NM_153617.2:c.110= NM_153617.2:c.110A>C NM_153617.2:c.110A>G
SEMA6D transcript variant 3 NM_153617.1:c.110= NM_153617.1:c.110A>C NM_153617.1:c.110A>G
SEMA6D transcript variant 1 NM_020858.2:c.110= NM_020858.2:c.110A>C NM_020858.2:c.110A>G
SEMA6D transcript variant 1 NM_020858.1:c.110= NM_020858.1:c.110A>C NM_020858.1:c.110A>G
SEMA6D transcript variant 2 NM_153616.2:c.110= NM_153616.2:c.110A>C NM_153616.2:c.110A>G
SEMA6D transcript variant 2 NM_153616.1:c.110= NM_153616.1:c.110A>C NM_153616.1:c.110A>G
SEMA6D transcript variant 7 NM_001198999.2:c.110= NM_001198999.2:c.110A>C NM_001198999.2:c.110A>G
SEMA6D transcript variant 7 NM_001198999.1:c.110= NM_001198999.1:c.110A>C NM_001198999.1:c.110A>G
SEMA6D transcript variant 9 NM_001358352.2:c.110= NM_001358352.2:c.110A>C NM_001358352.2:c.110A>G
SEMA6D transcript variant 9 NM_001358352.1:c.110= NM_001358352.1:c.110A>C NM_001358352.1:c.110A>G
SEMA6D transcript variant 5 NM_153619.1:c.110= NM_153619.1:c.110A>C NM_153619.1:c.110A>G
SEMA6D transcript variant X5 XM_017022617.3:c.110= XM_017022617.3:c.110A>C XM_017022617.3:c.110A>G
SEMA6D transcript variant X1 XM_017022617.2:c.110= XM_017022617.2:c.110A>C XM_017022617.2:c.110A>G
SEMA6D transcript variant X2 XM_017022617.1:c.110= XM_017022617.1:c.110A>C XM_017022617.1:c.110A>G
SEMA6D transcript variant X6 XM_011522075.3:c.110= XM_011522075.3:c.110A>C XM_011522075.3:c.110A>G
SEMA6D transcript variant X3 XM_011522075.2:c.110= XM_011522075.2:c.110A>C XM_011522075.2:c.110A>G
SEMA6D transcript variant X3 XM_011522075.1:c.110= XM_011522075.1:c.110A>C XM_011522075.1:c.110A>G
SEMA6D transcript variant X23 XM_011522076.3:c.110= XM_011522076.3:c.110A>C XM_011522076.3:c.110A>G
SEMA6D transcript variant X7 XM_011522076.2:c.110= XM_011522076.2:c.110A>C XM_011522076.2:c.110A>G
SEMA6D transcript variant X5 XM_011522076.1:c.110= XM_011522076.1:c.110A>C XM_011522076.1:c.110A>G
SEMA6D transcript variant X27 XM_011522077.3:c.110= XM_011522077.3:c.110A>C XM_011522077.3:c.110A>G
SEMA6D transcript variant X9 XM_011522077.2:c.110= XM_011522077.2:c.110A>C XM_011522077.2:c.110A>G
SEMA6D transcript variant X6 XM_011522077.1:c.110= XM_011522077.1:c.110A>C XM_011522077.1:c.110A>G
SEMA6D transcript variant X32 XM_011522078.3:c.110= XM_011522078.3:c.110A>C XM_011522078.3:c.110A>G
SEMA6D transcript variant X11 XM_011522078.2:c.110= XM_011522078.2:c.110A>C XM_011522078.2:c.110A>G
SEMA6D transcript variant X8 XM_011522078.1:c.110= XM_011522078.1:c.110A>C XM_011522078.1:c.110A>G
SEMA6D transcript variant X34 XM_011522079.3:c.110= XM_011522079.3:c.110A>C XM_011522079.3:c.110A>G
SEMA6D transcript variant X13 XM_011522079.2:c.110= XM_011522079.2:c.110A>C XM_011522079.2:c.110A>G
SEMA6D transcript variant X9 XM_011522079.1:c.110= XM_011522079.1:c.110A>C XM_011522079.1:c.110A>G
SEMA6D transcript variant X38 XM_011522080.3:c.110= XM_011522080.3:c.110A>C XM_011522080.3:c.110A>G
SEMA6D transcript variant X15 XM_011522080.2:c.110= XM_011522080.2:c.110A>C XM_011522080.2:c.110A>G
SEMA6D transcript variant X10 XM_011522080.1:c.110= XM_011522080.1:c.110A>C XM_011522080.1:c.110A>G
SEMA6D transcript variant X42 XM_011522081.3:c.110= XM_011522081.3:c.110A>C XM_011522081.3:c.110A>G
SEMA6D transcript variant X17 XM_011522081.2:c.110= XM_011522081.2:c.110A>C XM_011522081.2:c.110A>G
SEMA6D transcript variant X11 XM_011522081.1:c.110= XM_011522081.1:c.110A>C XM_011522081.1:c.110A>G
SEMA6D transcript variant X10 XM_024450075.2:c.110= XM_024450075.2:c.110A>C XM_024450075.2:c.110A>G
SEMA6D transcript variant X6 XM_024450075.1:c.110= XM_024450075.1:c.110A>C XM_024450075.1:c.110A>G
SEMA6D transcript variant X8 XM_024450074.2:c.110= XM_024450074.2:c.110A>C XM_024450074.2:c.110A>G
SEMA6D transcript variant X5 XM_024450074.1:c.110= XM_024450074.1:c.110A>C XM_024450074.1:c.110A>G
SEMA6D transcript variant X9 XM_024450073.2:c.110= XM_024450073.2:c.110A>C XM_024450073.2:c.110A>G
SEMA6D transcript variant X4 XM_024450073.1:c.110= XM_024450073.1:c.110A>C XM_024450073.1:c.110A>G
SEMA6D transcript variant X37 XM_017022620.2:c.110= XM_017022620.2:c.110A>C XM_017022620.2:c.110A>G
SEMA6D transcript variant X14 XM_017022620.1:c.110= XM_017022620.1:c.110A>C XM_017022620.1:c.110A>G
SEMA6D transcript variant X47 XM_017022621.2:c.110= XM_017022621.2:c.110A>C XM_017022621.2:c.110A>G
SEMA6D transcript variant X18 XM_017022621.1:c.110= XM_017022621.1:c.110A>C XM_017022621.1:c.110A>G
SEMA6D transcript variant X41 XM_024450076.2:c.110= XM_024450076.2:c.110A>C XM_024450076.2:c.110A>G
SEMA6D transcript variant X16 XM_024450076.1:c.110= XM_024450076.1:c.110A>C XM_024450076.1:c.110A>G
SEMA6D transcript variant X3 XM_047433108.1:c.110= XM_047433108.1:c.110A>C XM_047433108.1:c.110A>G
SEMA6D transcript variant X19 XM_047433119.1:c.110= XM_047433119.1:c.110A>C XM_047433119.1:c.110A>G
SEMA6D transcript variant X7 XM_047433110.1:c.110= XM_047433110.1:c.110A>C XM_047433110.1:c.110A>G
SEMA6D transcript variant X13 XM_047433113.1:c.110= XM_047433113.1:c.110A>C XM_047433113.1:c.110A>G
SEMA6D transcript variant X21 XM_047433121.1:c.110= XM_047433121.1:c.110A>C XM_047433121.1:c.110A>G
SEMA6D transcript variant X26 XM_047433125.1:c.110= XM_047433125.1:c.110A>C XM_047433125.1:c.110A>G
SEMA6D transcript variant X4 XM_047433109.1:c.110= XM_047433109.1:c.110A>C XM_047433109.1:c.110A>G
SEMA6D transcript variant X31 XM_047433129.1:c.110= XM_047433129.1:c.110A>C XM_047433129.1:c.110A>G
SEMA6D transcript variant X16 XM_047433116.1:c.110= XM_047433116.1:c.110A>C XM_047433116.1:c.110A>G
SEMA6D transcript variant X11 XM_047433111.1:c.110= XM_047433111.1:c.110A>C XM_047433111.1:c.110A>G
SEMA6D transcript variant X1 XM_047433106.1:c.110= XM_047433106.1:c.110A>C XM_047433106.1:c.110A>G
SEMA6D transcript variant X18 XM_047433118.1:c.110= XM_047433118.1:c.110A>C XM_047433118.1:c.110A>G
SEMA6D transcript variant X25 XM_047433124.1:c.110= XM_047433124.1:c.110A>C XM_047433124.1:c.110A>G
SEMA6D transcript variant X14 XM_047433114.1:c.110= XM_047433114.1:c.110A>C XM_047433114.1:c.110A>G
SEMA6D transcript variant X24 XM_047433123.1:c.110= XM_047433123.1:c.110A>C XM_047433123.1:c.110A>G
SEMA6D transcript variant X15 XM_047433115.1:c.110= XM_047433115.1:c.110A>C XM_047433115.1:c.110A>G
SEMA6D transcript variant X28 XM_047433126.1:c.110= XM_047433126.1:c.110A>C XM_047433126.1:c.110A>G
SEMA6D transcript variant X36 XM_047433133.1:c.110= XM_047433133.1:c.110A>C XM_047433133.1:c.110A>G
SEMA6D transcript variant X12 XM_047433112.1:c.110= XM_047433112.1:c.110A>C XM_047433112.1:c.110A>G
SEMA6D transcript variant X29 XM_047433127.1:c.110= XM_047433127.1:c.110A>C XM_047433127.1:c.110A>G
SEMA6D transcript variant X2 XM_047433107.1:c.110= XM_047433107.1:c.110A>C XM_047433107.1:c.110A>G
SEMA6D transcript variant X22 XM_047433122.1:c.110= XM_047433122.1:c.110A>C XM_047433122.1:c.110A>G
SEMA6D transcript variant X44 XM_047433137.1:c.110= XM_047433137.1:c.110A>C XM_047433137.1:c.110A>G
SEMA6D transcript variant X33 XM_047433130.1:c.110= XM_047433130.1:c.110A>C XM_047433130.1:c.110A>G
SEMA6D transcript variant X20 XM_047433120.1:c.110= XM_047433120.1:c.110A>C XM_047433120.1:c.110A>G
SEMA6D transcript variant X17 XM_047433117.1:c.110= XM_047433117.1:c.110A>C XM_047433117.1:c.110A>G
SEMA6D transcript variant X30 XM_047433128.1:c.110= XM_047433128.1:c.110A>C XM_047433128.1:c.110A>G
SEMA6D transcript variant X35 XM_047433132.1:c.110= XM_047433132.1:c.110A>C XM_047433132.1:c.110A>G
SEMA6D transcript variant X39 XM_047433134.1:c.110= XM_047433134.1:c.110A>C XM_047433134.1:c.110A>G
SEMA6D transcript variant X43 XM_047433136.1:c.110= XM_047433136.1:c.110A>C XM_047433136.1:c.110A>G
SEMA6D transcript variant X40 XM_047433135.1:c.110= XM_047433135.1:c.110A>C XM_047433135.1:c.110A>G
SEMA6D transcript variant X45 XM_047433138.1:c.110= XM_047433138.1:c.110A>C XM_047433138.1:c.110A>G
SEMA6D transcript variant X46 XM_047433139.1:c.110= XM_047433139.1:c.110A>C XM_047433139.1:c.110A>G
semaphorin-6D isoform 4 precursor NP_001345280.1:p.Tyr37= NP_001345280.1:p.Tyr37Ser NP_001345280.1:p.Tyr37Cys
semaphorin-6D isoform 6 precursor NP_079242.2:p.Tyr37= NP_079242.2:p.Tyr37Ser NP_079242.2:p.Tyr37Cys
semaphorin-6D isoform 4 precursor NP_705871.1:p.Tyr37= NP_705871.1:p.Tyr37Ser NP_705871.1:p.Tyr37Cys
semaphorin-6D isoform 3 precursor NP_705870.1:p.Tyr37= NP_705870.1:p.Tyr37Ser NP_705870.1:p.Tyr37Cys
semaphorin-6D isoform 1 precursor NP_065909.1:p.Tyr37= NP_065909.1:p.Tyr37Ser NP_065909.1:p.Tyr37Cys
semaphorin-6D isoform 2 precursor NP_705869.1:p.Tyr37= NP_705869.1:p.Tyr37Ser NP_705869.1:p.Tyr37Cys
semaphorin-6D isoform 1 precursor NP_001185928.1:p.Tyr37= NP_001185928.1:p.Tyr37Ser NP_001185928.1:p.Tyr37Cys
semaphorin-6D isoform 7 precursor NP_001345281.1:p.Tyr37= NP_001345281.1:p.Tyr37Ser NP_001345281.1:p.Tyr37Cys
semaphorin-6D isoform 5 precursor NP_705872.1:p.Tyr37= NP_705872.1:p.Tyr37Ser NP_705872.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_016878106.1:p.Tyr37= XP_016878106.1:p.Tyr37Ser XP_016878106.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_011520377.1:p.Tyr37= XP_011520377.1:p.Tyr37Ser XP_011520377.1:p.Tyr37Cys
semaphorin-6D isoform X3 XP_011520378.1:p.Tyr37= XP_011520378.1:p.Tyr37Ser XP_011520378.1:p.Tyr37Cys
semaphorin-6D isoform X4 XP_011520379.1:p.Tyr37= XP_011520379.1:p.Tyr37Ser XP_011520379.1:p.Tyr37Cys
semaphorin-6D isoform X5 XP_011520380.1:p.Tyr37= XP_011520380.1:p.Tyr37Ser XP_011520380.1:p.Tyr37Cys
semaphorin-6D isoform X6 XP_011520381.1:p.Tyr37= XP_011520381.1:p.Tyr37Ser XP_011520381.1:p.Tyr37Cys
semaphorin-6D isoform X7 XP_011520382.1:p.Tyr37= XP_011520382.1:p.Tyr37Ser XP_011520382.1:p.Tyr37Cys
semaphorin-6D isoform X8 XP_011520383.1:p.Tyr37= XP_011520383.1:p.Tyr37Ser XP_011520383.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_024305843.1:p.Tyr37= XP_024305843.1:p.Tyr37Ser XP_024305843.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_024305842.1:p.Tyr37= XP_024305842.1:p.Tyr37Ser XP_024305842.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_024305841.1:p.Tyr37= XP_024305841.1:p.Tyr37Ser XP_024305841.1:p.Tyr37Cys
semaphorin-6D isoform X6 XP_016878109.1:p.Tyr37= XP_016878109.1:p.Tyr37Ser XP_016878109.1:p.Tyr37Cys
semaphorin-6D isoform X8 XP_016878110.1:p.Tyr37= XP_016878110.1:p.Tyr37Ser XP_016878110.1:p.Tyr37Cys
semaphorin-6D isoform X7 XP_024305844.1:p.Tyr37= XP_024305844.1:p.Tyr37Ser XP_024305844.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289064.1:p.Tyr37= XP_047289064.1:p.Tyr37Ser XP_047289064.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289075.1:p.Tyr37= XP_047289075.1:p.Tyr37Ser XP_047289075.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289066.1:p.Tyr37= XP_047289066.1:p.Tyr37Ser XP_047289066.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289069.1:p.Tyr37= XP_047289069.1:p.Tyr37Ser XP_047289069.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289077.1:p.Tyr37= XP_047289077.1:p.Tyr37Ser XP_047289077.1:p.Tyr37Cys
semaphorin-6D isoform X3 XP_047289081.1:p.Tyr37= XP_047289081.1:p.Tyr37Ser XP_047289081.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289065.1:p.Tyr37= XP_047289065.1:p.Tyr37Ser XP_047289065.1:p.Tyr37Cys
semaphorin-6D isoform X4 XP_047289085.1:p.Tyr37= XP_047289085.1:p.Tyr37Ser XP_047289085.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289072.1:p.Tyr37= XP_047289072.1:p.Tyr37Ser XP_047289072.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289067.1:p.Tyr37= XP_047289067.1:p.Tyr37Ser XP_047289067.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289062.1:p.Tyr37= XP_047289062.1:p.Tyr37Ser XP_047289062.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289074.1:p.Tyr37= XP_047289074.1:p.Tyr37Ser XP_047289074.1:p.Tyr37Cys
semaphorin-6D isoform X3 XP_047289080.1:p.Tyr37= XP_047289080.1:p.Tyr37Ser XP_047289080.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289070.1:p.Tyr37= XP_047289070.1:p.Tyr37Ser XP_047289070.1:p.Tyr37Cys
semaphorin-6D isoform X3 XP_047289079.1:p.Tyr37= XP_047289079.1:p.Tyr37Ser XP_047289079.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289071.1:p.Tyr37= XP_047289071.1:p.Tyr37Ser XP_047289071.1:p.Tyr37Cys
semaphorin-6D isoform X4 XP_047289082.1:p.Tyr37= XP_047289082.1:p.Tyr37Ser XP_047289082.1:p.Tyr37Cys
semaphorin-6D isoform X6 XP_047289089.1:p.Tyr37= XP_047289089.1:p.Tyr37Ser XP_047289089.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289068.1:p.Tyr37= XP_047289068.1:p.Tyr37Ser XP_047289068.1:p.Tyr37Cys
semaphorin-6D isoform X4 XP_047289083.1:p.Tyr37= XP_047289083.1:p.Tyr37Ser XP_047289083.1:p.Tyr37Cys
semaphorin-6D isoform X1 XP_047289063.1:p.Tyr37= XP_047289063.1:p.Tyr37Ser XP_047289063.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289078.1:p.Tyr37= XP_047289078.1:p.Tyr37Ser XP_047289078.1:p.Tyr37Cys
semaphorin-6D isoform X8 XP_047289093.1:p.Tyr37= XP_047289093.1:p.Tyr37Ser XP_047289093.1:p.Tyr37Cys
semaphorin-6D isoform X5 XP_047289086.1:p.Tyr37= XP_047289086.1:p.Tyr37Ser XP_047289086.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289076.1:p.Tyr37= XP_047289076.1:p.Tyr37Ser XP_047289076.1:p.Tyr37Cys
semaphorin-6D isoform X2 XP_047289073.1:p.Tyr37= XP_047289073.1:p.Tyr37Ser XP_047289073.1:p.Tyr37Cys
semaphorin-6D isoform X4 XP_047289084.1:p.Tyr37= XP_047289084.1:p.Tyr37Ser XP_047289084.1:p.Tyr37Cys
semaphorin-6D isoform X6 XP_047289088.1:p.Tyr37= XP_047289088.1:p.Tyr37Ser XP_047289088.1:p.Tyr37Cys
semaphorin-6D isoform X7 XP_047289090.1:p.Tyr37= XP_047289090.1:p.Tyr37Ser XP_047289090.1:p.Tyr37Cys
semaphorin-6D isoform X8 XP_047289092.1:p.Tyr37= XP_047289092.1:p.Tyr37Ser XP_047289092.1:p.Tyr37Cys
semaphorin-6D isoform X7 XP_047289091.1:p.Tyr37= XP_047289091.1:p.Tyr37Ser XP_047289091.1:p.Tyr37Cys
semaphorin-6D isoform X8 XP_047289094.1:p.Tyr37= XP_047289094.1:p.Tyr37Ser XP_047289094.1:p.Tyr37Cys
semaphorin-6D isoform X8 XP_047289095.1:p.Tyr37= XP_047289095.1:p.Tyr37Ser XP_047289095.1:p.Tyr37Cys
Help

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#.

4 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2741225580 Nov 08, 2017 (151)
2 GNOMAD ss2749299284 Nov 08, 2017 (151)
3 GNOMAD ss2934572741 Nov 08, 2017 (151)
4 TOPMED ss4990350770 Apr 27, 2021 (155)
5 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 468217670 (NC_000015.10:47760303:A:C 1/140296)
Row 468217671 (NC_000015.10:47760303:A:G 5/140296)

- Apr 27, 2021 (155)
6 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 468217670 (NC_000015.10:47760303:A:C 1/140296)
Row 468217671 (NC_000015.10:47760303:A:G 5/140296)

- Apr 27, 2021 (155)
7 gnomAD - Exomes NC_000015.9 - 48052501 Jul 13, 2019 (153)
8 TopMed NC_000015.10 - 47760304 Apr 27, 2021 (155)
9 ALFA NC_000015.10 - 47760304 Apr 27, 2021 (155)
Help

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
ss2749299284, ss2934572741 NC_000015.9:48052500:A:C NC_000015.10:47760303:A:C (self)
11424590700 NC_000015.10:47760303:A:C NC_000015.10:47760303:A:C (self)
10490711, ss2741225580 NC_000015.9:48052500:A:G NC_000015.10:47760303:A:G (self)
205896430, 11424590700, ss4990350770 NC_000015.10:47760303:A:G NC_000015.10:47760303:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1477506283

Help

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
Top Help

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