HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122508758C>A , CM000672.2:g.122508758C>A | GRCh38 |
NC_000010.10:g.124268274C>A , CM000672.1:g.124268274C>A | GRCh37 |
NC_000010.9:g.124258264C>A | NCBI36 |
NG_011554.1:g.52234C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.1108C>A MANE Select | ENSP00000357980.3:p.Arg370= | |
ENST00000648167.1:c.790C>A | ENSP00000498033.1:p.Arg264= | |
ENST00000368984.7:c.1108C>A | ENSP00000357980.3:p.Arg370= | |
ENST00000420892.1:c.331C>A | ENSP00000412676.1:p.Arg111= | |
NM_002775.4:c.1108C>A | NP_002766.1:p.Arg370= | |
NM_002775.5:c.1108C>A MANE Select | NP_002766.1:p.Arg370= |