HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508662G>C , CM000672.2:g.122508662G>C | GRCh38 |
NC_000010.10:g.124268178G>C , CM000672.1:g.124268178G>C | GRCh37 |
NC_000010.9:g.124258168G>C | NCBI36 |
NG_011554.1:g.52138G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.1012G>C MANE Select | ENSP00000357980.3:p.Glu338Gln | |
ENST00000648167.1:c.694G>C | ENSP00000498033.1:p.Glu232Gln | |
ENST00000368984.7:c.1012G>C | ENSP00000357980.3:p.Glu338Gln | |
ENST00000420892.1:c.235G>C | ENSP00000412676.1:p.Glu79Gln | |
NM_002775.4:c.1012G>C | NP_002766.1:p.Glu338Gln | |
NM_002775.5:c.1012G>C MANE Select | NP_002766.1:p.Glu338Gln |