HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196747276A>C , CM000663.2:g.196747276A>C | GRCh38 |
NC_000001.10:g.196716406A>C , CM000663.1:g.196716406A>C | GRCh37 |
NC_000001.9:g.194983029A>C | NCBI36 |
NG_007259.1:g.100266A>C , LRG_47:g.100266A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367429.8:c.3659A>C | ENSP00000356399.4:p.Asp1220Ala | |
NM_000186.3:c.3659A>C , LRG_47t1:c.3659A>C | NP_000177.2:p.Asp1220Ala | |
NM_000186.4:c.3659A>C MANE Select | NP_000177.2:p.Asp1220Ala |