HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493526C>A , CM000676.2:g.74493526C>A | GRCh38 |
NC_000014.8:g.74960229C>A , CM000676.1:g.74960229C>A | GRCh37 |
NC_000014.7:g.74029982C>A | NCBI36 |
NG_007117.1:g.4856G>T | |
NG_033074.1:g.4807C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-64+44G>T | ENSP00000450887.1:n.-64+44G>T | |
ENST00000556009.5:c.147+505G>T |