HGVS | Genome Assembly |
---|---|
NC_000001.11:g.216325504G>T , CM000663.2:g.216325504G>T | GRCh38 |
NC_000001.10:g.216498846G>T , CM000663.1:g.216498846G>T | GRCh37 |
NC_000001.9:g.214565469G>T | NCBI36 |
NG_009497.1:g.102893C>A | |
NG_009497.2:g.102945C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.944C>A MANE Select | ENSP00000305941.3:p.Ala315Glu | |
ENST00000674083.1:c.944C>A | ENSP00000501296.1:p.Ala315Glu | |
ENST00000307340.7:c.944C>A | ENSP00000305941.3:p.Ala315Glu | |
ENST00000366942.3:c.944C>A | ENSP00000355909.3:p.Ala315Glu | |
NM_007123.5:c.944C>A | NP_009054.5:p.Ala315Glu | |
NM_206933.2:c.944C>A | NP_996816.2:p.Ala315Glu | |
NM_206933.3:c.944C>A | NP_996816.2:p.Ala315Glu | |
NM_007123.6:c.944C>A | NP_009054.6:p.Ala315Glu | |
NM_206933.4:c.944C>A MANE Select | NP_996816.3:p.Ala315Glu |