HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927752G>A , CM000663.2:g.149927752G>A | GRCh38 |
NC_000001.10:g.149899644G>A , CM000663.1:g.149899644G>A | GRCh37 |
NC_000001.9:g.148166268G>A | NCBI36 |
NG_032777.1:g.5501C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.8C>T MANE Select | ENSP00000271628.8:p.Ala3Val | |
ENST00000271628.8:c.8C>T | ENSP00000271628.8:p.Ala3Val | |
NM_005850.4:c.8C>T | NP_005841.1:p.Ala3Val | |
NM_005850.5:c.8C>T MANE Select | NP_005841.1:p.Ala3Val |