Linked Data
ClinVar Variation Id:
2181141
ClinVar RCV Id:
RCV002603173
dbSNP Id:
rs757143537
ExAC:
17:6328806 A / T
gnomAD v2:
17-6328806-A-T
gnomAD v4:
17-6425486-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425486A>T , CM000679.2:g.6425486A>T | GRCh38 |
| NC_000017.10:g.6328806A>T , CM000679.1:g.6328806A>T | GRCh37 |
| NC_000017.9:g.6269530A>T | NCBI36 |
| NG_008474.1:g.14714T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1129T>A MANE Select | ENSP00000370521.3:p.Ser377Thr | |
| ENST00000250087.9:c.940T>A | ENSP00000250087.5:p.Ser314Thr | |
| ENST00000381128.2:c.*1001T>A | ENSP00000370520.2:n.*1001T>A | |
| ENST00000381129.7:c.1129T>A | ENSP00000370521.3:p.Ser377Thr | |
| ENST00000570466.5:c.1063T>A | ENSP00000461287.1:p.Ser355Thr | |
| ENST00000570584.5:c.251+8433T>A | ||
| ENST00000574506.5:c.1093T>A | ENSP00000458456.1:p.Ser365Thr | |
| ENST00000575265.5:c.*1100T>A | ENSP00000459673.1:n.*1100T>A | |
| ENST00000576307.5:c.949T>A | ENSP00000459522.1:p.Ser317Thr | |
| ENST00000576776.5:c.1057T>A | ENSP00000460827.1:p.Ser353Thr | |
| ENST00000621374.4:c.*147T>A | ENSP00000481337.1:n.*147T>A | |
| NM_001033054.2:c.940T>A | NP_001028226.1:p.Ser314Thr | |
| NM_001033055.2:c.949T>A | NP_001028227.1:p.Ser317Thr | |
| NM_001285399.2:c.1093T>A | NP_001272328.1:p.Ser365Thr | |
| NM_001285400.2:c.1063T>A | NP_001272329.1:p.Ser355Thr | |
| NM_001285401.2:c.1057T>A | NP_001272330.1:p.Ser353Thr | |
| NM_001285402.1:c.1012T>A | NP_001272331.1:p.Ser338Thr | |
| NM_014336.4:c.1129T>A | NP_055151.3:p.Ser377Thr | |
| NM_001033054.3:c.940T>A | NP_001028226.1:p.Ser314Thr | |
| NM_001033055.3:c.949T>A | NP_001028227.1:p.Ser317Thr | |
| NM_001285399.3:c.1093T>A | NP_001272328.1:p.Ser365Thr | |
| NM_001285400.3:c.1063T>A | NP_001272329.1:p.Ser355Thr | |
| NM_001285401.3:c.1057T>A | NP_001272330.1:p.Ser353Thr | |
| NM_001285402.2:c.1012T>A | NP_001272331.1:p.Ser338Thr | |
| NM_001285403.3:c.*1100T>A | NP_001272332.1:n.*1100T>A | |
| NM_014336.5:c.1129T>A MANE Select | NP_055151.3:p.Ser377Thr | |
| NM_001285403.4:c.*1100T>A | NP_001272332.1:n.*1100T>A |