HGVS | Genome Assembly |
---|---|
NC_000001.11:g.152304910C>T , CM000663.2:g.152304910C>T | GRCh38 |
NC_000001.10:g.152277386C>T , CM000663.1:g.152277386C>T | GRCh37 |
NC_000001.9:g.150544010C>T | NCBI36 |
NG_016190.1:g.25294G>A , LRG_1028:g.25294G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368799.2:c.9976G>A MANE Select | ENSP00000357789.1:p.Ala3326Thr | |
ENST00000368799.1:c.9976G>A | ENSP00000357789.1:p.Ala3326Thr | |
NM_002016.1:c.9976G>A , LRG_1028t1:c.9976G>A | NP_002007.1:p.Ala3326Thr | |
XM_011509329.1:c.9108+868G>A | XP_011507631.1:n.9108+868G>A | |
NM_002016.2:c.9976G>A MANE Select | NP_002007.1:p.Ala3326Thr |