HGVS | Genome Assembly |
---|---|
NC_000014.9:g.30125451G>A , CM000676.2:g.30125451G>A | GRCh38 |
NC_000014.8:g.30594657G>A , CM000676.1:g.30594657G>A | GRCh37 |
NC_000014.7:g.29664408G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000549503.1:c.-46+65848C>T | ENSP00000446866.1:n.-46+65848C>T |