HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122461656C>A , CM000672.2:g.122461656C>A | GRCh38 |
NC_000010.10:g.124221172C>A , CM000672.1:g.124221172C>A | GRCh37 |
NC_000010.9:g.124211162C>A | NCBI36 |
NG_011554.1:g.5132C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.4C>A MANE Select | ENSP00000357980.3:p.Gln2Lys | |
ENST00000648167.1:c.154+2947C>A | ENSP00000498033.1:n.154+2947C>A | |
ENST00000368984.7:c.4C>A | ENSP00000357980.3:p.Gln2Lys | |
NM_002775.4:c.4C>A | NP_002766.1:p.Gln2Lys | |
NM_002775.5:c.4C>A MANE Select | NP_002766.1:p.Gln2Lys |