Linked Data
ClinVar Variation Id:
2377818
ClinVar RCV Id:
RCV004209202
dbSNP Id:
rs373371585
ExAC:
17:79767758 C / T
gnomAD v2:
17-79767758-C-T
gnomAD v3:
17-81809882-C-T
gnomAD v4:
17-81809882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81809882C>T , CM000679.2:g.81809882C>T | GRCh38 |
| NC_000017.10:g.79767758C>T , CM000679.1:g.79767758C>T | GRCh37 |
| NG_016409.1:g.8709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400723.8:c.161C>T MANE Select | ENSP00000383558.3:p.Thr54Met | |
| ENST00000400723.7:c.161C>T | ENSP00000383558.3:p.Thr54Met | |
| ENST00000570996.5:c.161C>T | ENSP00000460976.1:p.Thr54Met | |
| ENST00000572185.1:n.456C>T | ||
| ENST00000573428.1:c.161C>T | ENSP00000458930.1:p.Thr54Met | |
| ENST00000574283.2:n.95C>T | ||
| NM_000160.4:c.161C>T | NP_000151.1:p.Thr54Met | |
| XM_006722277.1:c.161C>T | XP_006722340.1:p.Thr54Met | |
| XM_011523539.1:c.-66C>T | XP_011521841.1:n.-66C>T | |
| XM_011523540.1:c.-356C>T | XP_011521842.1:n.-356C>T | |
| XM_017024446.1:c.155C>T | XP_016879935.1:p.Thr52Met | |
| XM_017024447.1:c.-356C>T | XP_016879936.1:n.-356C>T | |
| NM_000160.5:c.161C>T MANE Select | NP_000151.1:p.Thr54Met |