Linked Data
ClinVar Variation Id:
35650
ClinVar RCV Id:
RCV000029298
RCV000036896
RCV000172894
RCV000251944
RCV000624427
RCV000766343
RCV001081956
RCV001101126
dbSNP Id:
rs193922635
ExAC:
1:236918491 C / T
gnomAD v2:
1-236918491-C-T
gnomAD v3:
1-236755191-C-T
gnomAD v4:
1-236755191-C-T
COSMIC:
COSM906085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236755191C>T , CM000663.2:g.236755191C>T | GRCh38 |
| NC_000001.10:g.236918491C>T , CM000663.1:g.236918491C>T | GRCh37 |
| NC_000001.9:g.234985114C>T | NCBI36 |
| NG_009081.1:g.73722C>T | |
| NG_009081.2:g.96051C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542672.7:c.2147C>T | ENSP00000443495.1:p.Thr716Met | |
| ENST00000461367.2:n.443C>T | ||
| ENST00000492634.7:n.2077C>T | ||
| ENST00000682015.1:c.2054C>T | ENSP00000506961.1:p.Thr685Met | |
| ENST00000682692.1:n.3242C>T | ||
| ENST00000682966.1:n.7788C>T | ||
| ENST00000683111.1:c.*1433C>T | ENSP00000507913.1:n.*1433C>T | |
| ENST00000683322.1:n.3499C>T | ||
| ENST00000683805.1:n.938C>T | ||
| ENST00000684050.1:n.4785C>T | ||
| ENST00000684122.1:n.294C>T | ||
| ENST00000684286.1:n.3702C>T | ||
| ENST00000684502.1:n.3444C>T | ||
| ENST00000684763.1:n.762C>T | ||
| ENST00000366578.6:c.2147C>T MANE Select | ENSP00000355537.4:p.Thr716Met | |
| ENST00000492634.6:n.2077C>T | ||
| ENST00000542672.6:c.2147C>T | ENSP00000443495.1:p.Thr716Met | |
| ENST00000651091.1:c.1837C>T | ENSP00000498677.1:n.1837C>T | |
| ENST00000651275.1:c.2039C>T | ENSP00000498926.1:p.Thr680Met | |
| ENST00000651781.1:c.1227C>T | ||
| ENST00000651786.1:c.*1519C>T | ENSP00000498364.1:n.*1519C>T | |
| ENST00000652096.1:c.*1552C>T | ENSP00000498896.1:n.*1552C>T | |
| ENST00000366578.5:c.2147C>T | ENSP00000355537.4:p.Thr716Met | |
| ENST00000461367.1:n.356C>T | ||
| ENST00000542672.5:c.2147C>T | ENSP00000443495.1:p.Thr716Met | |
| ENST00000546208.5:c.1523C>T | ENSP00000438384.2:p.Thr508Met | |
| NM_001103.3:c.2147C>T | NP_001094.1:p.Thr716Met | |
| NM_001278343.1:c.2147C>T | NP_001265272.1:p.Thr716Met | |
| NM_001278344.1:c.1523C>T | NP_001265273.1:p.Thr508Met | |
| NM_001278343.2:c.2147C>T | NP_001265272.1:p.Thr716Met | |
| NM_001103.4:c.2147C>T MANE Select | NP_001094.1:p.Thr716Met | |
| NM_001278344.2:c.1523C>T | NP_001265273.1:p.Thr508Met |