HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304348G>T , CM000663.2:g.152304348G>T | GRCh38 |
NC_000001.10:g.152276824G>T , CM000663.1:g.152276824G>T | GRCh37 |
NC_000001.9:g.150543448G>T | NCBI36 |
NG_016190.1:g.25856C>A , LRG_1028:g.25856C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.10538C>A MANE Select | ENSP00000357789.1:p.Ala3513Glu | |
ENST00000368799.1:c.10538C>A | ENSP00000357789.1:p.Ala3513Glu | |
NM_002016.1:c.10538C>A , LRG_1028t1:c.10538C>A | NP_002007.1:p.Ala3513Glu | |
XM_011509329.1:c.9109-515C>A | XP_011507631.1:n.9109-515C>A | |
NM_002016.2:c.10538C>A MANE Select | NP_002007.1:p.Ala3513Glu |