Linked Data
ClinVar Variation Id:
432958
ClinVar RCV Id:
RCV000497815
dbSNP Id:
rs1555731828
COSMIC:
COSM995133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35729998C>T , CM000681.2:g.35729998C>T | GRCh38 |
| NC_000019.9:g.36220899C>T , CM000681.1:g.36220899C>T | GRCh37 |
| NC_000019.8:g.40912739C>T | NCBI36 |
| NG_052906.1:g.16980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4883C>T | ENSP00000501283.1:p.Thr1628Met | |
| ENST00000674114.2:c.2490C>T | ENSP00000501039.2:n.2490C>T | |
| ENST00000684977.1:c.167C>T | ENSP00000509384.1:p.Thr56Met | |
| ENST00000685168.1:c.375C>T | ||
| ENST00000689544.1:n.102C>T | ||
| ENST00000691421.1:c.170C>T | ENSP00000508674.1:p.Thr57Met | |
| ENST00000691855.1:c.4491C>T | ||
| ENST00000692961.1:c.4949C>T | ENSP00000509289.1:p.Thr1650Met | |
| ENST00000420124.4:c.4949C>T MANE Select | ENSP00000398837.2:p.Thr1650Met | |
| ENST00000673918.1:c.4883C>T | ENSP00000501283.1:p.Thr1628Met | |
| ENST00000674114.1:c.2271C>T | ||
| ENST00000420124.2:c.4949C>T | ENSP00000398837.1:p.Thr1650Met | |
| NM_014727.2:c.4949C>T | NP_055542.1:p.Thr1650Met | |
| XM_011527561.1:c.4883C>T | XP_011525863.1:p.Thr1628Met | |
| XM_011527562.1:c.4949C>T | XP_011525864.1:p.Thr1650Met | |
| XM_011527563.1:c.4673C>T | XP_011525865.1:p.Thr1558Met | |
| XM_011527561.2:c.4385C>T | XP_011525863.2:p.Thr1462Met | |
| XM_011527562.2:c.4949C>T | XP_011525864.1:p.Thr1650Met | |
| XM_017027544.1:c.4949C>T | XP_016883033.1:p.Thr1650Met | |
| XM_017027545.1:c.4385C>T | XP_016883034.1:p.Thr1462Met | |
| XM_017027546.1:c.1913C>T | XP_016883035.1:p.Thr638Met | |
| NM_014727.3:c.4949C>T MANE Select | NP_055542.1:p.Thr1650Met |