Linked Data
ClinVar Variation Id:
2913171
ClinVar RCV Id:
RCV003609827
dbSNP Id:
rs1396868043
gnomAD v2:
13-52520540-G-A
gnomAD v3:
13-51946404-G-A
gnomAD v4:
13-51946404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946404G>A , CM000675.2:g.51946404G>A | GRCh38 |
| NC_000013.10:g.52520540G>A , CM000675.1:g.52520540G>A | GRCh37 |
| NC_000013.9:g.51418541G>A | NCBI36 |
| NG_008806.1:g.70091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*773C>T | ENSP00000489512.2:n.*773C>T | |
| ENST00000673864.2:c.*1684C>T | ENSP00000501045.2:n.*1684C>T | |
| ENST00000674147.2:c.2319C>T | ENSP00000500964.2:p.Cys773= | |
| ENST00000242839.10:c.2940C>T MANE Select | ENSP00000242839.5:p.Cys980= | |
| ENST00000344297.9:c.2319C>T | ENSP00000342559.5:p.Cys773= | |
| ENST00000400366.6:c.2607C>T | ENSP00000383217.3:p.Cys869= | |
| ENST00000448424.7:c.2688C>T | ENSP00000416738.3:p.Cys896= | |
| ENST00000673772.1:c.2706C>T | ENSP00000501168.1:p.Cys902= | |
| ENST00000673867.1:n.1087C>T | ||
| ENST00000674126.1:n.3303C>T | ||
| ENST00000674147.1:c.1875C>T | ENSP00000500964.1:p.Cys625= | |
| ENST00000242839.8:c.2940C>T | ENSP00000242839.4:p.Cys980= | |
| ENST00000344297.8:c.2319C>T | ENSP00000342559.5:p.Cys773= | |
| ENST00000400366.5:c.2607C>T | ENSP00000383217.3:p.Cys869= | |
| ENST00000400370.8:c.1650C>T | ENSP00000383221.3:p.Cys550= | |
| ENST00000418097.7:c.2866-2113C>T | ENSP00000393343.2:n.2866-2113C>T | |
| ENST00000448424.6:c.2706C>T | ENSP00000416738.2:p.Cys902= | |
| ENST00000466629.1:n.160C>T | ||
| ENST00000634296.1:c.901C>T | ||
| ENST00000634308.1:c.*41C>T | ENSP00000489234.1:n.*41C>T | |
| ENST00000634620.1:n.3684C>T | ||
| ENST00000634810.1:n.2285C>T | ||
| ENST00000634844.1:c.2796C>T | ENSP00000489398.1:p.Cys932= | |
| ENST00000635406.1:n.286C>T | ||
| NM_000053.3:c.2940C>T | NP_000044.2:p.Cys980= | |
| NM_001005918.2:c.2319C>T | NP_001005918.1:p.Cys773= | |
| NM_001243182.1:c.2607C>T | NP_001230111.1:p.Cys869= | |
| XM_005266423.2:c.2844C>T | XP_005266480.1:p.Cys948= | |
| XM_005266424.3:c.2844C>T | XP_005266481.1:p.Cys948= | |
| XM_005266427.2:c.2706C>T | XP_005266484.1:p.Cys902= | |
| XM_005266428.1:c.2688C>T | XP_005266485.1:p.Cys896= | |
| XM_005266430.3:c.2940C>T | XP_005266487.1:p.Cys980= | |
| XM_005266431.2:c.2904C>T | XP_005266488.1:p.Cys968= | |
| XM_005266432.2:c.2454C>T | XP_005266489.1:p.Cys818= | |
| XM_006719837.2:c.2844C>T | XP_006719900.1:p.Cys948= | |
| XM_006719838.1:c.756C>T | XP_006719901.1:p.Cys252= | |
| XM_006719839.1:c.756C>T | XP_006719902.1:p.Cys252= | |
| XM_011535117.1:c.2844C>T | XP_011533419.1:p.Cys948= | |
| XM_011535118.1:c.2805C>T | XP_011533420.1:p.Cys935= | |
| XM_011535119.1:c.2940C>T | XP_011533421.1:p.Cys980= | |
| XM_011535120.1:c.2526C>T | XP_011533422.1:p.Cys842= | |
| XM_011535121.1:c.2730+3603C>T | XP_011533423.1:n.2730+3603C>T | |
| XM_011535122.1:c.1608C>T | XP_011533424.1:p.Cys536= | |
| XR_941601.1:n.3159C>T | ||
| XR_941602.1:n.3159C>T | ||
| XR_941603.1:n.3159C>T | ||
| XR_941604.1:n.3159C>T | ||
| NM_001330578.1:c.2706C>T | NP_001317507.1:p.Cys902= | |
| NM_001330579.1:c.2688C>T | NP_001317508.1:p.Cys896= | |
| XM_005266424.4:c.2844C>T | XP_005266481.1:p.Cys948= | |
| XM_005266430.4:c.2940C>T | XP_005266487.1:p.Cys980= | |
| XM_005266431.4:c.2904C>T | XP_005266488.1:p.Cys968= | |
| XM_006719837.3:c.2844C>T | XP_006719900.1:p.Cys948= | |
| XM_011535117.3:c.2844C>T | XP_011533419.1:p.Cys948= | |
| XM_017020627.1:c.2844C>T | XP_016876116.1:p.Cys948= | |
| NM_000053.4:c.2940C>T MANE Select | NP_000044.2:p.Cys980= | |
| NM_001005918.3:c.2319C>T | NP_001005918.1:p.Cys773= | |
| NM_001330579.2:c.2688C>T | NP_001317508.1:p.Cys896= | |
| NM_001243182.2:c.2607C>T | NP_001230111.1:p.Cys869= | |
| NM_001330578.2:c.2706C>T | NP_001317507.1:p.Cys902= |