HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12778021C>A , CM000686.2:g.12778021C>A | GRCh38 |
NC_000024.9:g.14889955C>A , CM000686.1:g.14889955C>A | GRCh37 |
NC_000024.8:g.13399349C>A | NCBI36 |
NG_008311.1:g.81796C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.2642C>A | ENSP00000498372.1:p.Ala881Glu | |
ENST00000338981.7:c.2642C>A MANE Select | ENSP00000342812.3:p.Ala881Glu | |
ENST00000426564.6:n.2654C>A | ||
NM_004654.3:c.2642C>A | NP_004645.2:p.Ala881Glu | |
XM_011531469.1:c.2642C>A | XP_011529771.1:p.Ala881Glu | |
XM_011531470.1:c.2408C>A | XP_011529772.1:p.Ala803Glu | |
XM_017030078.2:c.2657C>A | XP_016885567.1:p.Ala886Glu | |
NM_004654.4:c.2642C>A MANE Select | NP_004645.2:p.Ala881Glu |