HGVS | Genome Assembly |
---|---|
NC_000010.11:g.46046509G>T , CM000672.2:g.46046509G>T | GRCh38 |
NC_000010.10:g.51549313C>A , CM000672.1:g.51549313C>A | GRCh37 |
NC_000010.9:g.51219319C>A | NCBI36 |
NG_011551.1:g.4761C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000663171.1:c.-142-130C>A | ENSP00000499419.1:n.-142-130C>A |