HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196747269T>A , CM000663.2:g.196747269T>A | GRCh38 |
NC_000001.10:g.196716399T>A , CM000663.1:g.196716399T>A | GRCh37 |
NC_000001.9:g.194983022T>A | NCBI36 |
NG_007259.1:g.100259T>A , LRG_47:g.100259T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367429.8:c.3652T>A | ENSP00000356399.4:p.Cys1218Ser | |
NM_000186.3:c.3652T>A , LRG_47t1:c.3652T>A | NP_000177.2:p.Cys1218Ser | |
NM_000186.4:c.3652T>A MANE Select | NP_000177.2:p.Cys1218Ser |