HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041590C>A , CM000674.2:g.56041590C>A | GRCh38 |
NC_000012.11:g.56435374C>A , CM000674.1:g.56435374C>A | GRCh37 |
NC_000012.10:g.54721641C>A | NCBI36 |
NG_023201.1:g.4689C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-357+194C>A | ENSP00000348849.5:n.-357+194C>A | |
XR_944989.1:n.123G>T | ||
XR_944990.1:n.123G>T | ||
XR_944989.3:n.414G>T | ||
XR_944990.3:n.414G>T |