HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42132713T>A , CM000684.2:g.42132713T>A | GRCh38 |
NC_000022.10:g.42528720T>A , CM000684.1:g.42528720T>A | GRCh37 |
NC_000022.9:g.40858664T>A | NCBI36 |
NG_008376.3:g.2279A>T | |
NG_008376.4:g.3098A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417586.1:n.171T>A | ||
XM_011529967.1:c.-1045-877A>T | XP_011528269.1:n.-1045-877A>T |