HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2789135C>T , CM000686.2:g.2789135C>T | GRCh38 |
NC_000024.9:g.2657176C>T , CM000686.1:g.2657176C>T | GRCh37 |
NC_000024.8:g.2717176C>T | NCBI36 |
NG_011751.1:g.3617G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+14396C>T | ||
ENST00000680285.1:n.320-614C>T | ||
ENST00000681787.1:n.106+14396C>T | ||
ENST00000681940.1:n.106+14396C>T |