HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94046958G>T , CM000663.2:g.94046958G>T | GRCh38 |
NC_000001.10:g.94512514G>T , CM000663.1:g.94512514G>T | GRCh37 |
NC_000001.9:g.94285102G>T | NCBI36 |
NG_009073.1:g.79192C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370225.4:c.2879C>A MANE Select | ENSP00000359245.3:p.Ala960Glu | |
ENST00000649773.1:c.2657C>A | ENSP00000496882.1:p.Ala886Glu | |
ENST00000370225.3:c.2879C>A | ENSP00000359245.3:p.Ala960Glu | |
ENST00000536513.5:c.-64-6869C>A | ENSP00000439707.2:n.-64-6869C>A | |
NM_000350.2:c.2879C>A | NP_000341.2:p.Ala960Glu | |
NM_000350.3:c.2879C>A MANE Select | NP_000341.2:p.Ala960Glu |