HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50025640C>T , CM000681.2:g.50025640C>T | GRCh38 |
NC_000019.9:g.50528897C>T , CM000681.1:g.50528897C>T | GRCh37 |
NC_000019.8:g.55220709C>T | NCBI36 |
NG_051198.1:g.4835C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000596445.5:c.-65+28G>A | ENSP00000469092.1:n.-65+28G>A | |
ENST00000599538.5:c.-359G>A | ENSP00000469880.1:n.-359G>A | |
XM_005258972.2:c.-359G>A | XP_005259029.1:n.-359G>A |