HGVS | Genome Assembly |
---|---|
NC_000001.11:g.220878493T>C , CM000663.2:g.220878493T>C | GRCh38 |
NC_000001.10:g.221051835T>C , CM000663.1:g.221051835T>C | GRCh37 |
NC_000001.9:g.219118458T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651706.1:c.843-2701T>C | ENSP00000499157.1:n.843-2701T>C | |
NR_046901.1:n.292+1356A>G | ||
XM_011510307.1:c.566A>G | XP_011508609.1:p.Asn189Ser |