HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196747273G>C , CM000663.2:g.196747273G>C | GRCh38 |
NC_000001.10:g.196716403G>C , CM000663.1:g.196716403G>C | GRCh37 |
NC_000001.9:g.194983026G>C | NCBI36 |
NG_007259.1:g.100263G>C , LRG_47:g.100263G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367429.8:c.3656G>C | ENSP00000356399.4:p.Trp1219Ser | |
NM_000186.3:c.3656G>C , LRG_47t1:c.3656G>C | NP_000177.2:p.Trp1219Ser | |
NM_000186.4:c.3656G>C MANE Select | NP_000177.2:p.Trp1219Ser |