HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17381968A>G , CM000663.2:g.17381968A>G | GRCh38 |
NC_000001.10:g.17708463A>G , CM000663.1:g.17708463A>G | GRCh37 |
NC_000001.9:g.17581050A>G | NCBI36 |
NG_032943.1:g.14723A>G | |
NG_032943.2:g.14723A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619609.1:c.555A>G MANE Select | ENSP00000483125.1:p.Glu185= | |
NM_207421.4:c.555A>G MANE Select | NP_997304.3:p.Glu185= |