HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313709G>A , CM000672.2:g.30313709G>A | GRCh38 |
NC_000010.10:g.30602638G>A , CM000672.1:g.30602638G>A | GRCh37 |
NC_000010.9:g.30642644G>A | NCBI36 |
NG_028096.1:g.40630C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263063.9:c.1649C>T MANE Select | ENSP00000263063.3:p.Ala550Val | |
ENST00000263063.8:c.1649C>T | ENSP00000263063.3:p.Ala550Val | |
ENST00000488290.5:n.3404C>T | ||
NM_018109.3:c.1649C>T | NP_060579.3:p.Ala550Val | |
NM_018109.4:c.1649C>T MANE Select | NP_060579.3:p.Ala550Val |