Linked Data
ClinVar Variation Id:
208084
dbSNP Id:
rs762754992
ExAC:
7:143039088 C / T
gnomAD v2:
7-143039088-C-T
gnomAD v4:
7-143341995-C-T
COSMIC:
COSM5997703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341995C>T , CM000669.2:g.143341995C>T | GRCh38 |
| NC_000007.13:g.143039088C>T , CM000669.1:g.143039088C>T | GRCh37 |
| NC_000007.12:g.142749210C>T | NCBI36 |
| NG_009815.1:g.30870C>T | |
| NG_009815.2:g.30870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1649C>T | ENSP00000498052.2:p.Thr550Met | |
| ENST00000343257.7:c.1649C>T MANE Select | ENSP00000339867.2:p.Thr550Met | |
| ENST00000432192.6:c.1473C>T | ||
| ENST00000343257.6:c.1649C>T | ENSP00000339867.2:p.Thr550Met | |
| NM_000083.2:c.1649C>T | NP_000074.2:p.Thr550Met | |
| NR_046453.1:n.1589C>T | ||
| XM_011515781.1:c.1673C>T | XP_011514083.1:p.Thr558Met | |
| XM_011515782.1:c.395C>T | XP_011514084.1:p.Thr132Met | |
| XM_011515782.2:c.395C>T | XP_011514084.1:p.Thr132Met | |
| XM_017011739.1:c.1223C>T | XP_016867228.1:p.Thr408Met | |
| XM_017011740.1:c.1199C>T | XP_016867229.1:p.Thr400Met | |
| NM_000083.3:c.1649C>T MANE Select | NP_000074.3:p.Thr550Met | |
| NR_046453.2:n.1604C>T |