HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2822636C>A , CM000686.2:g.2822636C>A | GRCh38 |
NC_000024.9:g.2690677C>A , CM000686.1:g.2690677C>A | GRCh37 |
NC_000024.8:g.2750677C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.107-18850C>A | ||
ENST00000681787.1:n.107-18392C>A | ||
ENST00000681940.1:n.107-23010C>A |