HGVS | Genome Assembly |
---|---|
NC_000004.12:g.10048517C>T , CM000666.2:g.10048517C>T | GRCh38 |
NC_000004.11:g.10050141C>T , CM000666.1:g.10050141C>T | GRCh37 |
NC_000004.10:g.9659239C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000506583.5:c.-176+6316G>A | ENSP00000422209.1:n.-176+6316G>A | |
ENST00000513129.1:c.-41+6316G>A | ENSP00000426800.1:n.-41+6316G>A |