HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912574C>G , CM000674.2:g.4912574C>G | GRCh38 |
NC_000012.11:g.5021740C>G , CM000674.1:g.5021740C>G | GRCh37 |
NC_000012.10:g.4892001C>G | NCBI36 |
NG_011815.1:g.7668C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1196C>G MANE Select | ENSP00000371985.3:p.Thr399Arg | |
ENST00000543874.3:n.105+2102C>G | ||
ENST00000639306.1:c.1034C>G | ENSP00000492506.1:p.Thr345Arg | |
ENST00000639680.1:c.76+308C>G | ||
ENST00000382545.3:c.1196C>G | ENSP00000371985.3:p.Thr399Arg | |
ENST00000541095.1:n.105+2102C>G | ||
ENST00000543874.2:n.96+2102C>G | ||
NM_000217.2:c.1196C>G | NP_000208.2:p.Thr399Arg | |
NM_000217.3:c.1196C>G MANE Select | NP_000208.2:p.Thr399Arg |