HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041523G>A , CM000674.2:g.56041523G>A | GRCh38 |
NC_000012.11:g.56435307G>A , CM000674.1:g.56435307G>A | GRCh37 |
NC_000012.10:g.54721574G>A | NCBI36 |
NG_023201.1:g.4622G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-357+127G>A | ENSP00000348849.5:n.-357+127G>A | |
XR_944989.1:n.190C>T | ||
XR_944990.1:n.190C>T | ||
XR_944989.3:n.481C>T | ||
XR_944990.3:n.481C>T |