Linked Data
ClinVar Variation Id:
1019337
ClinVar RCV Id:
RCV001318759
dbSNP Id:
rs774512680
ExAC:
5:179260662 T / A
gnomAD v2:
5-179260662-T-A
gnomAD v4:
5-179833662-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833662T>A , CM000667.2:g.179833662T>A | GRCh38 |
| NC_000005.9:g.179260662T>A , CM000667.1:g.179260662T>A | GRCh37 |
| NC_000005.8:g.179193268T>A | NCBI36 |
| NG_011342.1:g.32275T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.1045T>A MANE Select | ENSP00000374455.4:p.Ser349Thr | |
| ENST00000360718.5:c.793T>A | ENSP00000353944.5:p.Ser265Thr | |
| ENST00000389805.8:c.1045T>A | ENSP00000374455.4:p.Ser349Thr | |
| ENST00000510187.5:c.950+435T>A | ENSP00000424477.1:n.950+435T>A | |
| NM_001142298.1:c.793T>A | NP_001135770.1:p.Ser265Thr | |
| NM_001142299.1:c.793T>A | NP_001135771.1:p.Ser265Thr | |
| NM_003900.4:c.1045T>A | NP_003891.1:p.Ser349Thr | |
| XM_017010010.1:c.793T>A | XP_016865499.1:p.Ser265Thr | |
| NM_003900.5:c.1045T>A MANE Select | NP_003891.1:p.Ser349Thr | |
| NM_001142298.2:c.793T>A | NP_001135770.1:p.Ser265Thr | |
| NM_001142299.2:c.793T>A | NP_001135771.1:p.Ser265Thr |