HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17401495G>A , CM000663.2:g.17401495G>A | GRCh38 |
NC_000001.10:g.17727991G>A , CM000663.1:g.17727991G>A | GRCh37 |
NC_000001.9:g.17600578G>A | NCBI36 |
NG_032943.1:g.34250G>A | |
NG_032943.2:g.34250G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.*57G>A MANE Select | ENSP00000483125.1:n.*57G>A | |
NM_207421.4:c.*57G>A MANE Select | NP_997304.3:n.*57G>A |