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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.

rs1485771502

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:31647616 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/241234, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BAG6 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 241234 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 130504 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 47300 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 32828 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 14844 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9866 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5892 G=1.0000 A=0.0000
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 6 NC_000006.12:g.31647616G>A
GRCh37.p13 chr 6 NC_000006.11:g.31615393G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3124905G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3125011G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2903436G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2909032G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2895383G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2900968G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2946899G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2946197G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2952662G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2958282G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2989482G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2995067G>A
Gene: BAG6, BAG cochaperone 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BAG6 transcript variant 4 NM_001098534.2:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_001092004.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 2 NM_080702.3:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_542433.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 3 NM_080703.3:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_542434.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 5 NM_001199697.2:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 3 NP_001186626.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 6 NM_001199698.2:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 4 NP_001186627.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 19 NM_001387963.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 15 NP_001374892.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 15 NM_001387955.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 19 NP_001374884.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 25 NM_001387985.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 11 NP_001374914.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 60 NM_001388020.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 5 NP_001374949.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 18 NM_001387961.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_001374890.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 29 NM_001387989.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 5 NP_001374918.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 56 NM_001388016.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 13 NP_001374945.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 12 NM_001387949.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 26 NP_001374878.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 44 NM_001388004.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 14 NP_001374933.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 53 NM_001388013.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 24 NP_001374942.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 32 NM_001387992.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 7 NP_001374921.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 26 NM_001387986.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_001374915.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 23 NM_001387983.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 13 NP_001374912.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 10 NM_001387944.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 21 NP_001374873.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 36 NM_001387996.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 5 NP_001374925.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 48 NM_001388008.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 9 NP_001374937.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 42 NM_001388002.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 17 NP_001374931.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 57 NM_001388017.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_001374946.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 35 NM_001387995.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 6 NP_001374924.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 49 NM_001388009.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 8 NP_001374938.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 38 NM_001387998.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 19 NP_001374927.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 40 NM_001388000.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 26 NP_001374929.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 7 NM_001387940.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 4 NP_001374869.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 21 NM_001387965.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 12 NP_001374894.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 34 NM_001387994.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 5 NP_001374923.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 55 NM_001388015.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_001374944.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 31 NM_001387991.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 7 NP_001374920.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 54 NM_001388014.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 4 NP_001374943.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 17 NM_001387958.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 18 NP_001374887.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 59 NM_001388019.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 6 NP_001374948.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 27 NM_001387987.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 10 NP_001374916.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 30 NM_001387990.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 10 NP_001374919.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 14 NM_001387954.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 12 NP_001374883.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 22 NM_001387982.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 14 NP_001374911.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 45 NM_001388005.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 13 NP_001374934.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 28 NM_001387988.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 6 NP_001374917.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 39 NM_001387999.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 4 NP_001374928.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 47 NM_001388007.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 10 NP_001374936.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 11 NM_001387946.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 20 NP_001374875.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 50 NM_001388010.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 6 NP_001374939.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 51 NM_001388011.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 5 NP_001374940.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 20 NM_001387964.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 14 NP_001374893.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 13 NM_001387951.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 25 NP_001374880.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 16 NM_001387956.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 4 NP_001374885.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 8 NM_001387942.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 22 NP_001374871.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 58 NM_001388018.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 2 NP_001374947.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 41 NM_001388001.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 4 NP_001374930.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 46 NM_001388006.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 12 NP_001374935.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 37 NM_001387997.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 21 NP_001374926.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 43 NM_001388003.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 16 NP_001374932.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 24 NM_001387984.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 12 NP_001374913.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 52 NM_001388012.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 23 NP_001374941.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 33 NM_001387993.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 6 NP_001374922.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant 9 NM_001387943.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform 20 NP_001374872.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X9 XM_017011297.2:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X6 XP_016866786.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X12 XM_017011296.2:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X7 XP_016866785.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X1 XM_047419338.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X1 XP_047275294.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X2 XM_047419339.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X2 XP_047275295.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X3 XM_047419340.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X2 XP_047275296.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X4 XM_047419341.1:c.763C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X3 XP_047275297.1:p.Pro255Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X5 XM_047419342.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X4 XP_047275298.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X6 XM_047419343.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X4 XP_047275299.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X7 XM_047419344.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X5 XP_047275300.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X8 XM_047419345.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X5 XP_047275301.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X10 XM_047419346.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X6 XP_047275302.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X11 XM_047419347.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X6 XP_047275303.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X13 XM_047419348.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X8 XP_047275304.1:p.Pro237Ser P (Pro) > S (Ser) Missense Variant
BAG6 transcript variant X14 XM_047419349.1:c.709C>T P [CCT] > S [TCT] Coding Sequence Variant
large proline-rich protein BAG6 isoform X9 XP_047275305.1:p.Pro237Ser P (Pro) > S (Ser) 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 G= A
GRCh38.p14 chr 6 NC_000006.12:g.31647616= NC_000006.12:g.31647616G>A
GRCh37.p13 chr 6 NC_000006.11:g.31615393= NC_000006.11:g.31615393G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3124905= NT_113891.3:g.3124905G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3125011= NT_113891.2:g.3125011G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2903436= NT_167248.2:g.2903436G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2909032= NT_167248.1:g.2909032G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2895383= NT_167245.2:g.2895383G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2900968= NT_167245.1:g.2900968G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2946899= NT_167249.2:g.2946899G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2946197= NT_167249.1:g.2946197G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2952662= NT_167246.2:g.2952662G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2958282= NT_167246.1:g.2958282G>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2989482= NT_167247.2:g.2989482G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2995067= NT_167247.1:g.2995067G>A
BAG6 transcript variant 1 NM_004639.3:c.781= NM_004639.3:c.781C>T
BAG6 transcript variant 3 NM_080703.3:c.763= NM_080703.3:c.763C>T
BAG6 transcript variant 3 NM_080703.2:c.763= NM_080703.2:c.763C>T
BAG6 transcript variant 2 NM_080702.3:c.763= NM_080702.3:c.763C>T
BAG6 transcript variant 2 NM_080702.2:c.763= NM_080702.2:c.763C>T
BAG6 transcript variant 4 NM_001098534.2:c.763= NM_001098534.2:c.763C>T
BAG6 transcript variant 4 NM_001098534.1:c.763= NM_001098534.1:c.763C>T
BAG6 transcript variant X9 XM_017011297.2:c.709= XM_017011297.2:c.709C>T
BAG6 transcript variant X24 XM_017011297.1:c.709= XM_017011297.1:c.709C>T
BAG6 transcript variant 6 NM_001199698.2:c.763= NM_001199698.2:c.763C>T
BAG6 transcript variant 6 NM_001199698.1:c.763= NM_001199698.1:c.763C>T
BAG6 transcript variant X12 XM_017011296.2:c.763= XM_017011296.2:c.763C>T
BAG6 transcript variant X23 XM_017011296.1:c.763= XM_017011296.1:c.763C>T
BAG6 transcript variant 5 NM_001199697.2:c.763= NM_001199697.2:c.763C>T
BAG6 transcript variant 5 NM_001199697.1:c.763= NM_001199697.1:c.763C>T
BAG6 transcript variant 32 NM_001387992.1:c.709= NM_001387992.1:c.709C>T
BAG6 transcript variant 31 NM_001387991.1:c.709= NM_001387991.1:c.709C>T
BAG6 transcript variant 30 NM_001387990.1:c.763= NM_001387990.1:c.763C>T
BAG6 transcript variant 23 NM_001387983.1:c.763= NM_001387983.1:c.763C>T
BAG6 transcript variant 22 NM_001387982.1:c.709= NM_001387982.1:c.709C>T
BAG6 transcript variant 20 NM_001387964.1:c.709= NM_001387964.1:c.709C>T
BAG6 transcript variant 19 NM_001387963.1:c.709= NM_001387963.1:c.709C>T
BAG6 transcript variant 49 NM_001388009.1:c.763= NM_001388009.1:c.763C>T
BAG6 transcript variant X7 XM_047419344.1:c.709= XM_047419344.1:c.709C>T
BAG6 transcript variant 48 NM_001388008.1:c.763= NM_001388008.1:c.763C>T
BAG6 transcript variant X10 XM_047419346.1:c.709= XM_047419346.1:c.709C>T
BAG6 transcript variant 18 NM_001387961.1:c.763= NM_001387961.1:c.763C>T
BAG6 transcript variant 17 NM_001387958.1:c.709= NM_001387958.1:c.709C>T
BAG6 transcript variant 15 NM_001387955.1:c.763= NM_001387955.1:c.763C>T
BAG6 transcript variant 14 NM_001387954.1:c.763= NM_001387954.1:c.763C>T
BAG6 transcript variant 44 NM_001388004.1:c.709= NM_001388004.1:c.709C>T
BAG6 transcript variant 43 NM_001388003.1:c.763= NM_001388003.1:c.763C>T
BAG6 transcript variant 42 NM_001388002.1:c.763= NM_001388002.1:c.763C>T
BAG6 transcript variant X14 XM_047419349.1:c.709= XM_047419349.1:c.709C>T
BAG6 transcript variant 8 NM_001387942.1:c.709= NM_001387942.1:c.709C>T
BAG6 transcript variant 41 NM_001388001.1:c.763= NM_001388001.1:c.763C>T
BAG6 transcript variant 54 NM_001388014.1:c.763= NM_001388014.1:c.763C>T
BAG6 transcript variant 37 NM_001387997.1:c.709= NM_001387997.1:c.709C>T
BAG6 transcript variant 60 NM_001388020.1:c.763= NM_001388020.1:c.763C>T
BAG6 transcript variant 33 NM_001387993.1:c.763= NM_001387993.1:c.763C>T
BAG6 transcript variant 58 NM_001388018.1:c.763= NM_001388018.1:c.763C>T
BAG6 transcript variant 52 NM_001388012.1:c.763= NM_001388012.1:c.763C>T
BAG6 transcript variant 57 NM_001388017.1:c.763= NM_001388017.1:c.763C>T
BAG6 transcript variant 56 NM_001388016.1:c.763= NM_001388016.1:c.763C>T
BAG6 transcript variant 29 NM_001387989.1:c.763= NM_001387989.1:c.763C>T
BAG6 transcript variant 26 NM_001387986.1:c.763= NM_001387986.1:c.763C>T
BAG6 transcript variant 45 NM_001388005.1:c.763= NM_001388005.1:c.763C>T
BAG6 transcript variant 51 NM_001388011.1:c.763= NM_001388011.1:c.763C>T
BAG6 transcript variant 16 NM_001387956.1:c.763= NM_001387956.1:c.763C>T
BAG6 transcript variant 59 NM_001388019.1:c.763= NM_001388019.1:c.763C>T
BAG6 transcript variant 36 NM_001387996.1:c.763= NM_001387996.1:c.763C>T
BAG6 transcript variant 35 NM_001387995.1:c.763= NM_001387995.1:c.763C>T
BAG6 transcript variant 34 NM_001387994.1:c.763= NM_001387994.1:c.763C>T
BAG6 transcript variant X3 XM_047419340.1:c.709= XM_047419340.1:c.709C>T
BAG6 transcript variant 28 NM_001387988.1:c.763= NM_001387988.1:c.763C>T
BAG6 transcript variant 50 NM_001388010.1:c.763= NM_001388010.1:c.763C>T
BAG6 transcript variant 27 NM_001387987.1:c.763= NM_001387987.1:c.763C>T
BAG6 transcript variant 25 NM_001387985.1:c.763= NM_001387985.1:c.763C>T
BAG6 transcript variant 24 NM_001387984.1:c.763= NM_001387984.1:c.763C>T
BAG6 transcript variant X5 XM_047419342.1:c.709= XM_047419342.1:c.709C>T
BAG6 transcript variant 21 NM_001387965.1:c.763= NM_001387965.1:c.763C>T
BAG6 transcript variant X1 XM_047419338.1:c.709= XM_047419338.1:c.709C>T
BAG6 transcript variant X4 XM_047419341.1:c.763= XM_047419341.1:c.763C>T
BAG6 transcript variant 47 NM_001388007.1:c.763= NM_001388007.1:c.763C>T
BAG6 transcript variant 46 NM_001388006.1:c.763= NM_001388006.1:c.763C>T
BAG6 transcript variant 13 NM_001387951.1:c.763= NM_001387951.1:c.763C>T
BAG6 transcript variant 55 NM_001388015.1:c.763= NM_001388015.1:c.763C>T
BAG6 transcript variant 12 NM_001387949.1:c.763= NM_001387949.1:c.763C>T
BAG6 transcript variant X6 XM_047419343.1:c.709= XM_047419343.1:c.709C>T
BAG6 transcript variant 11 NM_001387946.1:c.763= NM_001387946.1:c.763C>T
BAG6 transcript variant 10 NM_001387944.1:c.709= NM_001387944.1:c.709C>T
BAG6 transcript variant 9 NM_001387943.1:c.763= NM_001387943.1:c.763C>T
BAG6 transcript variant X8 XM_047419345.1:c.709= XM_047419345.1:c.709C>T
BAG6 transcript variant X11 XM_047419347.1:c.709= XM_047419347.1:c.709C>T
BAG6 transcript variant X13 XM_047419348.1:c.709= XM_047419348.1:c.709C>T
BAG6 transcript variant 7 NM_001387940.1:c.763= NM_001387940.1:c.763C>T
BAG6 transcript variant 40 NM_001388000.1:c.763= NM_001388000.1:c.763C>T
BAG6 transcript variant 39 NM_001387999.1:c.763= NM_001387999.1:c.763C>T
BAG6 transcript variant 38 NM_001387998.1:c.763= NM_001387998.1:c.763C>T
BAG6 transcript variant 53 NM_001388013.1:c.709= NM_001388013.1:c.709C>T
BAG6 transcript variant X2 XM_047419339.1:c.709= XM_047419339.1:c.709C>T
large proline-rich protein BAG6 isoform 2 NP_542434.1:p.Pro255= NP_542434.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 2 NP_542433.1:p.Pro255= NP_542433.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 2 NP_001092004.1:p.Pro255= NP_001092004.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X6 XP_016866786.1:p.Pro237= XP_016866786.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 4 NP_001186627.1:p.Pro255= NP_001186627.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X7 XP_016866785.1:p.Pro255= XP_016866785.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 3 NP_001186626.1:p.Pro255= NP_001186626.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 7 NP_001374921.1:p.Pro237= NP_001374921.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 7 NP_001374920.1:p.Pro237= NP_001374920.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 10 NP_001374919.1:p.Pro255= NP_001374919.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 13 NP_001374912.1:p.Pro255= NP_001374912.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 14 NP_001374911.1:p.Pro237= NP_001374911.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 14 NP_001374893.1:p.Pro237= NP_001374893.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 15 NP_001374892.1:p.Pro237= NP_001374892.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 8 NP_001374938.1:p.Pro255= NP_001374938.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X5 XP_047275300.1:p.Pro237= XP_047275300.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 9 NP_001374937.1:p.Pro255= NP_001374937.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X6 XP_047275302.1:p.Pro237= XP_047275302.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 2 NP_001374890.1:p.Pro255= NP_001374890.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 18 NP_001374887.1:p.Pro237= NP_001374887.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 19 NP_001374884.1:p.Pro255= NP_001374884.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 12 NP_001374883.1:p.Pro255= NP_001374883.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 14 NP_001374933.1:p.Pro237= NP_001374933.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 16 NP_001374932.1:p.Pro255= NP_001374932.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 17 NP_001374931.1:p.Pro255= NP_001374931.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X9 XP_047275305.1:p.Pro237= XP_047275305.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 22 NP_001374871.1:p.Pro237= NP_001374871.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 4 NP_001374930.1:p.Pro255= NP_001374930.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 4 NP_001374943.1:p.Pro255= NP_001374943.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 21 NP_001374926.1:p.Pro237= NP_001374926.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 5 NP_001374949.1:p.Pro255= NP_001374949.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 6 NP_001374922.1:p.Pro255= NP_001374922.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 2 NP_001374947.1:p.Pro255= NP_001374947.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 23 NP_001374941.1:p.Pro255= NP_001374941.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 2 NP_001374946.1:p.Pro255= NP_001374946.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 13 NP_001374945.1:p.Pro255= NP_001374945.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 5 NP_001374918.1:p.Pro255= NP_001374918.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 2 NP_001374915.1:p.Pro255= NP_001374915.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 13 NP_001374934.1:p.Pro255= NP_001374934.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 5 NP_001374940.1:p.Pro255= NP_001374940.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 4 NP_001374885.1:p.Pro255= NP_001374885.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 6 NP_001374948.1:p.Pro255= NP_001374948.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 5 NP_001374925.1:p.Pro255= NP_001374925.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 6 NP_001374924.1:p.Pro255= NP_001374924.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 5 NP_001374923.1:p.Pro255= NP_001374923.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X2 XP_047275296.1:p.Pro237= XP_047275296.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 6 NP_001374917.1:p.Pro255= NP_001374917.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 6 NP_001374939.1:p.Pro255= NP_001374939.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 10 NP_001374916.1:p.Pro255= NP_001374916.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 11 NP_001374914.1:p.Pro255= NP_001374914.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 12 NP_001374913.1:p.Pro255= NP_001374913.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X4 XP_047275298.1:p.Pro237= XP_047275298.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 12 NP_001374894.1:p.Pro255= NP_001374894.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X1 XP_047275294.1:p.Pro237= XP_047275294.1:p.Pro237Ser
large proline-rich protein BAG6 isoform X3 XP_047275297.1:p.Pro255= XP_047275297.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 10 NP_001374936.1:p.Pro255= NP_001374936.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 12 NP_001374935.1:p.Pro255= NP_001374935.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 25 NP_001374880.1:p.Pro255= NP_001374880.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 2 NP_001374944.1:p.Pro255= NP_001374944.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 26 NP_001374878.1:p.Pro255= NP_001374878.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X4 XP_047275299.1:p.Pro237= XP_047275299.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 20 NP_001374875.1:p.Pro255= NP_001374875.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 21 NP_001374873.1:p.Pro237= NP_001374873.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 20 NP_001374872.1:p.Pro255= NP_001374872.1:p.Pro255Ser
large proline-rich protein BAG6 isoform X5 XP_047275301.1:p.Pro237= XP_047275301.1:p.Pro237Ser
large proline-rich protein BAG6 isoform X6 XP_047275303.1:p.Pro237= XP_047275303.1:p.Pro237Ser
large proline-rich protein BAG6 isoform X8 XP_047275304.1:p.Pro237= XP_047275304.1:p.Pro237Ser
large proline-rich protein BAG6 isoform 4 NP_001374869.1:p.Pro255= NP_001374869.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 26 NP_001374929.1:p.Pro255= NP_001374929.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 4 NP_001374928.1:p.Pro255= NP_001374928.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 19 NP_001374927.1:p.Pro255= NP_001374927.1:p.Pro255Ser
large proline-rich protein BAG6 isoform 24 NP_001374942.1:p.Pro237= NP_001374942.1:p.Pro237Ser
large proline-rich protein BAG6 isoform X2 XP_047275295.1:p.Pro237= XP_047275295.1:p.Pro237Ser
large proline-rich protein BAG6 isoform a NP_004630.3:p.Pro261= NP_004630.3:p.Pro261Ser
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2735654243 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000006.11 - 31615393 Jul 13, 2019 (153)
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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
4796917, ss2735654243 NC_000006.11:31615392:G:A NC_000006.12:31647615:G:A (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 rs1485771502

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
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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