HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493582C>A , CM000676.2:g.74493582C>A | GRCh38 |
NC_000014.8:g.74960285C>A , CM000676.1:g.74960285C>A | GRCh37 |
NC_000014.7:g.74030038C>A | NCBI36 |
NG_007117.1:g.4800G>T | |
NG_033074.1:g.4863C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-76G>T | ENSP00000450887.1:n.-76G>T | |
ENST00000556009.5:c.147+449G>T |