Linked Data
dbSNP Id:
rs750754702
ExAC:
13:52518313 C / T
gnomAD v2:
13-52518313-C-T
gnomAD v3:
13-51944177-C-T
gnomAD v4:
13-51944177-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944177C>T , CM000675.2:g.51944177C>T | GRCh38 |
| NC_000013.10:g.52518313C>T , CM000675.1:g.52518313C>T | GRCh37 |
| NC_000013.9:g.51416314C>T | NCBI36 |
| NG_008806.1:g.72318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1623G>A | ENSP00000489512.2:n.*894-1623G>A | |
| ENST00000673864.2:c.*1919G>A | ENSP00000501045.2:n.*1919G>A | |
| ENST00000674147.2:c.2554G>A | ENSP00000500964.2:p.Val852Met | |
| ENST00000242839.10:c.3175G>A MANE Select | ENSP00000242839.5:p.Val1059Met | |
| ENST00000344297.9:c.2554G>A | ENSP00000342559.5:p.Val852Met | |
| ENST00000400366.6:c.2842G>A | ENSP00000383217.3:p.Val948Met | |
| ENST00000448424.7:c.2923G>A | ENSP00000416738.3:p.Val975Met | |
| ENST00000673772.1:c.2941G>A | ENSP00000501168.1:p.Val981Met | |
| ENST00000673867.1:n.3314G>A | ||
| ENST00000674126.1:n.3538G>A | ||
| ENST00000674147.1:c.2110G>A | ENSP00000500964.1:p.Val704Met | |
| ENST00000242839.8:c.3175G>A | ENSP00000242839.4:p.Val1059Met | |
| ENST00000344297.8:c.2554G>A | ENSP00000342559.5:p.Val852Met | |
| ENST00000400366.5:c.2842G>A | ENSP00000383217.3:p.Val948Met | |
| ENST00000400370.8:c.1885G>A | ENSP00000383221.3:p.Val629Met | |
| ENST00000418097.7:c.2980G>A | ENSP00000393343.2:p.Val994Met | |
| ENST00000448424.6:c.2941G>A | ENSP00000416738.2:p.Val981Met | |
| ENST00000466629.1:n.395G>A | ||
| ENST00000634296.1:c.1022-1623G>A | ||
| ENST00000634308.1:c.*276G>A | ENSP00000489234.1:n.*276G>A | |
| ENST00000634620.1:n.3919G>A | ||
| ENST00000634810.1:n.2520G>A | ||
| ENST00000634844.1:c.3031G>A | ENSP00000489398.1:p.Val1011Met | |
| NM_000053.3:c.3175G>A | NP_000044.2:p.Val1059Met | |
| NM_001005918.2:c.2554G>A | NP_001005918.1:p.Val852Met | |
| NM_001243182.1:c.2842G>A | NP_001230111.1:p.Val948Met | |
| XM_005266423.2:c.3079G>A | XP_005266480.1:p.Val1027Met | |
| XM_005266424.3:c.3079G>A | XP_005266481.1:p.Val1027Met | |
| XM_005266427.2:c.2941G>A | XP_005266484.1:p.Val981Met | |
| XM_005266428.1:c.2923G>A | XP_005266485.1:p.Val975Met | |
| XM_005266430.3:c.3175G>A | XP_005266487.1:p.Val1059Met | |
| XM_005266431.2:c.3139G>A | XP_005266488.1:p.Val1047Met | |
| XM_005266432.2:c.2689G>A | XP_005266489.1:p.Val897Met | |
| XM_006719837.2:c.3079G>A | XP_006719900.1:p.Val1027Met | |
| XM_006719838.1:c.991G>A | XP_006719901.1:p.Val331Met | |
| XM_006719839.1:c.877-1623G>A | XP_006719902.1:n.877-1623G>A | |
| XM_011535117.1:c.3079G>A | XP_011533419.1:p.Val1027Met | |
| XM_011535118.1:c.3040G>A | XP_011533420.1:p.Val1014Met | |
| XM_011535119.1:c.3061-1623G>A | XP_011533421.1:n.3061-1623G>A | |
| XM_011535120.1:c.2761G>A | XP_011533422.1:p.Val921Met | |
| XM_011535121.1:c.2731-1623G>A | XP_011533423.1:n.2731-1623G>A | |
| XM_011535122.1:c.1843G>A | XP_011533424.1:p.Val615Met | |
| XR_941601.1:n.3394G>A | ||
| XR_941602.1:n.3394G>A | ||
| XR_941603.1:n.3394G>A | ||
| XR_941604.1:n.3394G>A | ||
| NM_001330578.1:c.2941G>A | NP_001317507.1:p.Val981Met | |
| NM_001330579.1:c.2923G>A | NP_001317508.1:p.Val975Met | |
| XM_005266424.4:c.3079G>A | XP_005266481.1:p.Val1027Met | |
| XM_005266430.4:c.3175G>A | XP_005266487.1:p.Val1059Met | |
| XM_005266431.4:c.3139G>A | XP_005266488.1:p.Val1047Met | |
| XM_006719837.3:c.3079G>A | XP_006719900.1:p.Val1027Met | |
| XM_011535117.3:c.3079G>A | XP_011533419.1:p.Val1027Met | |
| XM_017020627.1:c.3079G>A | XP_016876116.1:p.Val1027Met | |
| NM_000053.4:c.3175G>A MANE Select | NP_000044.2:p.Val1059Met | |
| NM_001005918.3:c.2554G>A | NP_001005918.1:p.Val852Met | |
| NM_001330579.2:c.2923G>A | NP_001317508.1:p.Val975Met | |
| NM_001243182.2:c.2842G>A | NP_001230111.1:p.Val948Met | |
| NM_001330578.2:c.2941G>A | NP_001317507.1:p.Val981Met |