Linked Data
ClinVar Variation Id:
188886
dbSNP Id:
rs753250853
ExAC:
13:52516671 A / T
gnomAD v2:
13-52516671-A-T
gnomAD v3:
13-51942535-A-T
gnomAD v4:
13-51942535-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942535A>T , CM000675.2:g.51942535A>T | GRCh38 |
| NC_000013.10:g.52516671A>T , CM000675.1:g.52516671A>T | GRCh37 |
| NC_000013.9:g.51414672A>T | NCBI36 |
| NG_008806.1:g.73960T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*913T>A | ENSP00000489512.2:n.*913T>A | |
| ENST00000673864.2:c.*2007T>A | ENSP00000501045.2:n.*2007T>A | |
| ENST00000674147.2:c.2642T>A | ENSP00000500964.2:p.Leu881Ter | |
| ENST00000242839.10:c.3263T>A MANE Select | ENSP00000242839.5:p.Leu1088Ter | |
| ENST00000344297.9:c.2642T>A | ENSP00000342559.5:p.Leu881Ter | |
| ENST00000400366.6:c.2930T>A | ENSP00000383217.3:p.Leu977Ter | |
| ENST00000448424.7:c.3011T>A | ENSP00000416738.3:p.Leu1004Ter | |
| ENST00000673772.1:c.3029T>A | ENSP00000501168.1:p.Leu1010Ter | |
| ENST00000673867.1:n.3402T>A | ||
| ENST00000674126.1:n.3626T>A | ||
| ENST00000674147.1:c.2198T>A | ENSP00000500964.1:p.Leu733Ter | |
| ENST00000242839.8:c.3263T>A | ENSP00000242839.4:p.Leu1088Ter | |
| ENST00000344297.8:c.2642T>A | ENSP00000342559.5:p.Leu881Ter | |
| ENST00000400366.5:c.2930T>A | ENSP00000383217.3:p.Leu977Ter | |
| ENST00000400370.8:c.1973T>A | ENSP00000383221.3:p.Leu658Ter | |
| ENST00000418097.7:c.3068T>A | ENSP00000393343.2:p.Leu1023Ter | |
| ENST00000448424.6:c.3029T>A | ENSP00000416738.2:p.Leu1010Ter | |
| ENST00000634296.1:c.1041T>A | ||
| ENST00000634308.1:c.*364T>A | ENSP00000489234.1:n.*364T>A | |
| ENST00000634620.1:n.4007T>A | ||
| ENST00000634810.1:n.2608T>A | ||
| ENST00000634844.1:c.3119T>A | ENSP00000489398.1:p.Leu1040Ter | |
| NM_000053.3:c.3263T>A | NP_000044.2:p.Leu1088Ter | |
| NM_001005918.2:c.2642T>A | NP_001005918.1:p.Leu881Ter | |
| NM_001243182.1:c.2930T>A | NP_001230111.1:p.Leu977Ter | |
| XM_005266423.2:c.3167T>A | XP_005266480.1:p.Leu1056Ter | |
| XM_005266424.3:c.3167T>A | XP_005266481.1:p.Leu1056Ter | |
| XM_005266427.2:c.3029T>A | XP_005266484.1:p.Leu1010Ter | |
| XM_005266428.1:c.3011T>A | XP_005266485.1:p.Leu1004Ter | |
| XM_005266430.3:c.3263T>A | XP_005266487.1:p.Leu1088Ter | |
| XM_005266431.2:c.3227T>A | XP_005266488.1:p.Leu1076Ter | |
| XM_005266432.2:c.2777T>A | XP_005266489.1:p.Leu926Ter | |
| XM_006719837.2:c.3167T>A | XP_006719900.1:p.Leu1056Ter | |
| XM_006719838.1:c.1079T>A | XP_006719901.1:p.Leu360Ter | |
| XM_006719839.1:c.896T>A | XP_006719902.1:p.Leu299Ter | |
| XM_011535117.1:c.3167T>A | XP_011533419.1:p.Leu1056Ter | |
| XM_011535118.1:c.3128T>A | XP_011533420.1:p.Leu1043Ter | |
| XM_011535119.1:c.3080T>A | XP_011533421.1:p.Leu1027Ter | |
| XM_011535120.1:c.2849T>A | XP_011533422.1:p.Leu950Ter | |
| XM_011535121.1:c.2750T>A | XP_011533423.1:p.Leu917Ter | |
| XM_011535122.1:c.1931T>A | XP_011533424.1:p.Leu644Ter | |
| XR_941601.1:n.3482T>A | ||
| XR_941602.1:n.3482T>A | ||
| XR_941603.1:n.3482T>A | ||
| XR_941604.1:n.3482T>A | ||
| NM_001330578.1:c.3029T>A | NP_001317507.1:p.Leu1010Ter | |
| NM_001330579.1:c.3011T>A | NP_001317508.1:p.Leu1004Ter | |
| XM_005266424.4:c.3167T>A | XP_005266481.1:p.Leu1056Ter | |
| XM_005266430.4:c.3263T>A | XP_005266487.1:p.Leu1088Ter | |
| XM_005266431.4:c.3227T>A | XP_005266488.1:p.Leu1076Ter | |
| XM_006719837.3:c.3167T>A | XP_006719900.1:p.Leu1056Ter | |
| XM_011535117.3:c.3167T>A | XP_011533419.1:p.Leu1056Ter | |
| XM_017020627.1:c.3167T>A | XP_016876116.1:p.Leu1056Ter | |
| NM_000053.4:c.3263T>A MANE Select | NP_000044.2:p.Leu1088Ter | |
| NM_001005918.3:c.2642T>A | NP_001005918.1:p.Leu881Ter | |
| NM_001330579.2:c.3011T>A | NP_001317508.1:p.Leu1004Ter | |
| NM_001243182.2:c.2930T>A | NP_001230111.1:p.Leu977Ter | |
| NM_001330578.2:c.3029T>A | NP_001317507.1:p.Leu1010Ter |