HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506885C>G , CM000672.2:g.122506885C>G | GRCh38 |
NC_000010.10:g.124266401C>G , CM000672.1:g.124266401C>G | GRCh37 |
NC_000010.9:g.124256391C>G | NCBI36 |
NG_011554.1:g.50361C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.972C>G MANE Select | ENSP00000357980.3:p.Asn324Lys | |
ENST00000648167.1:c.654C>G | ENSP00000498033.1:p.Asn218Lys | |
ENST00000368984.7:c.972C>G | ENSP00000357980.3:p.Asn324Lys | |
ENST00000420892.1:c.195C>G | ENSP00000412676.1:p.Asn65Lys | |
NM_002775.4:c.972C>G | NP_002766.1:p.Asn324Lys | |
NM_002775.5:c.972C>G MANE Select | NP_002766.1:p.Asn324Lys |