HGVS | Genome Assembly |
---|---|
NC_000001.11:g.230710231G>A , CM000663.2:g.230710231G>A | GRCh38 |
NC_000001.10:g.230845977G>A , CM000663.1:g.230845977G>A | GRCh37 |
NC_000001.9:g.228912600G>A | NCBI36 |
NG_008836.1:g.9360C>T | |
NG_008836.2:g.9360C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366667.4:c.620C>T | ENSP00000355627.4:p.Thr207Met | |
NM_000029.3:c.620C>T | NP_000020.1:p.Thr207Met | |
NM_000029.4:c.620C>T | NP_000020.1:p.Thr207Met | |
NM_001382817.3:c.593C>T | NP_001369746.2:p.Thr198Met | |
NM_001384479.1:c.593C>T MANE Select | NP_001371408.1:p.Thr198Met |