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