HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508761C>G , CM000672.2:g.122508761C>G | GRCh38 |
NC_000010.10:g.124268277C>G , CM000672.1:g.124268277C>G | GRCh37 |
NC_000010.9:g.124258267C>G | NCBI36 |
NG_011554.1:g.52237C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.1111C>G MANE Select | ENSP00000357980.3:p.Gln371Glu | |
ENST00000648167.1:c.793C>G | ENSP00000498033.1:p.Gln265Glu | |
ENST00000368984.7:c.1111C>G | ENSP00000357980.3:p.Gln371Glu | |
ENST00000420892.1:c.334C>G | ENSP00000412676.1:p.Gln112Glu | |
NM_002775.4:c.1111C>G | NP_002766.1:p.Gln371Glu | |
NM_002775.5:c.1111C>G MANE Select | NP_002766.1:p.Gln371Glu |