Linked Data
ClinVar Variation Id:
983749
ClinVar RCV Id:
RCV001263752
dbSNP Id:
rs1957506216
gnomAD v4:
13-51944115-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944115A>T , CM000675.2:g.51944115A>T | GRCh38 |
| NC_000013.10:g.52518251A>T , CM000675.1:g.52518251A>T | GRCh37 |
| NC_000013.9:g.51416252A>T | NCBI36 |
| NG_008806.1:g.72380T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1561T>A | ENSP00000489512.2:n.*894-1561T>A | |
| ENST00000673864.2:c.*1981T>A | ENSP00000501045.2:n.*1981T>A | |
| ENST00000674147.2:c.2616T>A | ENSP00000500964.2:p.Cys872Ter | |
| ENST00000242839.10:c.3237T>A MANE Select | ENSP00000242839.5:p.Cys1079Ter | |
| ENST00000344297.9:c.2616T>A | ENSP00000342559.5:p.Cys872Ter | |
| ENST00000400366.6:c.2904T>A | ENSP00000383217.3:p.Cys968Ter | |
| ENST00000448424.7:c.2985T>A | ENSP00000416738.3:p.Cys995Ter | |
| ENST00000673772.1:c.3003T>A | ENSP00000501168.1:p.Cys1001Ter | |
| ENST00000673867.1:n.3376T>A | ||
| ENST00000674126.1:n.3600T>A | ||
| ENST00000674147.1:c.2172T>A | ENSP00000500964.1:p.Cys724Ter | |
| ENST00000242839.8:c.3237T>A | ENSP00000242839.4:p.Cys1079Ter | |
| ENST00000344297.8:c.2616T>A | ENSP00000342559.5:p.Cys872Ter | |
| ENST00000400366.5:c.2904T>A | ENSP00000383217.3:p.Cys968Ter | |
| ENST00000400370.8:c.1947T>A | ENSP00000383221.3:p.Cys649Ter | |
| ENST00000418097.7:c.3042T>A | ENSP00000393343.2:p.Cys1014Ter | |
| ENST00000448424.6:c.3003T>A | ENSP00000416738.2:p.Cys1001Ter | |
| ENST00000466629.1:n.457T>A | ||
| ENST00000634296.1:c.1022-1561T>A | ||
| ENST00000634308.1:c.*338T>A | ENSP00000489234.1:n.*338T>A | |
| ENST00000634620.1:n.3981T>A | ||
| ENST00000634810.1:n.2582T>A | ||
| ENST00000634844.1:c.3093T>A | ENSP00000489398.1:p.Cys1031Ter | |
| NM_000053.3:c.3237T>A | NP_000044.2:p.Cys1079Ter | |
| NM_001005918.2:c.2616T>A | NP_001005918.1:p.Cys872Ter | |
| NM_001243182.1:c.2904T>A | NP_001230111.1:p.Cys968Ter | |
| XM_005266423.2:c.3141T>A | XP_005266480.1:p.Cys1047Ter | |
| XM_005266424.3:c.3141T>A | XP_005266481.1:p.Cys1047Ter | |
| XM_005266427.2:c.3003T>A | XP_005266484.1:p.Cys1001Ter | |
| XM_005266428.1:c.2985T>A | XP_005266485.1:p.Cys995Ter | |
| XM_005266430.3:c.3237T>A | XP_005266487.1:p.Cys1079Ter | |
| XM_005266431.2:c.3201T>A | XP_005266488.1:p.Cys1067Ter | |
| XM_005266432.2:c.2751T>A | XP_005266489.1:p.Cys917Ter | |
| XM_006719837.2:c.3141T>A | XP_006719900.1:p.Cys1047Ter | |
| XM_006719838.1:c.1053T>A | XP_006719901.1:p.Cys351Ter | |
| XM_006719839.1:c.877-1561T>A | XP_006719902.1:n.877-1561T>A | |
| XM_011535117.1:c.3141T>A | XP_011533419.1:p.Cys1047Ter | |
| XM_011535118.1:c.3102T>A | XP_011533420.1:p.Cys1034Ter | |
| XM_011535119.1:c.3061-1561T>A | XP_011533421.1:n.3061-1561T>A | |
| XM_011535120.1:c.2823T>A | XP_011533422.1:p.Cys941Ter | |
| XM_011535121.1:c.2731-1561T>A | XP_011533423.1:n.2731-1561T>A | |
| XM_011535122.1:c.1905T>A | XP_011533424.1:p.Cys635Ter | |
| XR_941601.1:n.3456T>A | ||
| XR_941602.1:n.3456T>A | ||
| XR_941603.1:n.3456T>A | ||
| XR_941604.1:n.3456T>A | ||
| NM_001330578.1:c.3003T>A | NP_001317507.1:p.Cys1001Ter | |
| NM_001330579.1:c.2985T>A | NP_001317508.1:p.Cys995Ter | |
| XM_005266424.4:c.3141T>A | XP_005266481.1:p.Cys1047Ter | |
| XM_005266430.4:c.3237T>A | XP_005266487.1:p.Cys1079Ter | |
| XM_005266431.4:c.3201T>A | XP_005266488.1:p.Cys1067Ter | |
| XM_006719837.3:c.3141T>A | XP_006719900.1:p.Cys1047Ter | |
| XM_011535117.3:c.3141T>A | XP_011533419.1:p.Cys1047Ter | |
| XM_017020627.1:c.3141T>A | XP_016876116.1:p.Cys1047Ter | |
| NM_000053.4:c.3237T>A MANE Select | NP_000044.2:p.Cys1079Ter | |
| NM_001005918.3:c.2616T>A | NP_001005918.1:p.Cys872Ter | |
| NM_001330579.2:c.2985T>A | NP_001317508.1:p.Cys995Ter | |
| NM_001243182.2:c.2904T>A | NP_001230111.1:p.Cys968Ter | |
| NM_001330578.2:c.3003T>A | NP_001317507.1:p.Cys1001Ter |