HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204190472G>T , CM000663.2:g.204190472G>T | GRCh38 |
NC_000001.10:g.204159600G>T , CM000663.1:g.204159600G>T | GRCh37 |
NC_000001.9:g.202426223G>T | NCBI36 |
NG_032151.1:g.11020C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367194.5:c.*12C>A MANE Select | ENSP00000356162.4:n.*12C>A | |
ENST00000367194.4:c.*12C>A | ENSP00000356162.4:n.*12C>A | |
ENST00000625357.1:c.425C>A | ENSP00000485957.1:p.Ala142Glu | |
NM_002256.3:c.*12C>A | NP_002247.3:n.*12C>A | |
XM_011509525.1:c.*12C>A | XP_011507827.1:n.*12C>A | |
NM_002256.4:c.*12C>A MANE Select | NP_002247.3:n.*12C>A |