HGVS | Genome Assembly |
---|---|
NC_000003.12:g.185254161C>T , CM000665.2:g.185254161C>T | GRCh38 |
NC_000003.11:g.184971949C>T , CM000665.1:g.184971949C>T | GRCh37 |
NC_000003.10:g.186454643C>T | NCBI36 |
NG_015999.1:g.4938G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000465178.1:n.228-5644G>A | ||
XM_011512517.1:c.-214-5644G>A | XP_011510819.1:n.-214-5644G>A |