HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322960C>T , CM000677.2:g.73322960C>T | GRCh38 |
NC_000015.9:g.73615301C>T , CM000677.1:g.73615301C>T | GRCh37 |
NC_000015.8:g.71402354C>T | NCBI36 |
NG_009063.1:g.51305G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3133G>A MANE Select | ENSP00000261917.3:p.Ala1045Thr | |
ENST00000261917.3:c.3133G>A | ENSP00000261917.3:p.Ala1045Thr | |
NM_005477.2:c.3133G>A | NP_005468.1:p.Ala1045Thr | |
XM_011521148.1:c.1915G>A | XP_011519450.1:p.Ala639Thr | |
XM_011521148.2:c.1915G>A | XP_011519450.1:p.Ala639Thr | |
NM_005477.3:c.3133G>A MANE Select | NP_005468.1:p.Ala1045Thr |