HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506821G>T , CM000672.2:g.122506821G>T | GRCh38 |
NC_000010.10:g.124266337G>T , CM000672.1:g.124266337G>T | GRCh37 |
NC_000010.9:g.124256327G>T | NCBI36 |
NG_011554.1:g.50297G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.908G>T MANE Select | ENSP00000357980.3:p.Gly303Val | |
ENST00000648167.1:c.590G>T | ENSP00000498033.1:p.Gly197Val | |
ENST00000368984.7:c.908G>T | ENSP00000357980.3:p.Gly303Val | |
ENST00000420892.1:c.131G>T | ENSP00000412676.1:p.Gly44Val | |
NM_002775.4:c.908G>T | NP_002766.1:p.Gly303Val | |
NM_002775.5:c.908G>T MANE Select | NP_002766.1:p.Gly303Val |