HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12208143C>T , CM000686.2:g.12208143C>T | GRCh38 |
NC_000024.9:g.14328849C>T , CM000686.1:g.14328849C>T | GRCh37 |
NC_000024.8:g.12838849C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651802.1:n.587+2022G>A | ||
ENST00000651835.1:n.630-1560G>A |