HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493539C>A , CM000676.2:g.74493539C>A | GRCh38 |
NC_000014.8:g.74960242C>A , CM000676.1:g.74960242C>A | GRCh37 |
NC_000014.7:g.74029995C>A | NCBI36 |
NG_007117.1:g.4843G>T | |
NG_033074.1:g.4820C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-64+31G>T | ENSP00000450887.1:n.-64+31G>T | |
ENST00000556009.5:c.147+492G>T |