HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508978C>T , CM000672.2:g.122508978C>T | GRCh38 |
NC_000010.10:g.124268494C>T , CM000672.1:g.124268494C>T | GRCh37 |
NC_000010.9:g.124258484C>T | NCBI36 |
NG_011554.1:g.52454C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.1120+208C>T MANE Select | ENSP00000357980.3:n.1120+208C>T | |
ENST00000648167.1:c.802+208C>T | ENSP00000498033.1:n.802+208C>T | |
ENST00000368984.7:c.1120+208C>T | ENSP00000357980.3:n.1120+208C>T | |
ENST00000420892.1:c.343+208C>T | ENSP00000412676.1:n.343+208C>T | |
NM_002775.4:c.1120+208C>T | NP_002766.1:n.1120+208C>T | |
NM_002775.5:c.1120+208C>T MANE Select | NP_002766.1:n.1120+208C>T |