HGVS | Genome Assembly |
---|---|
NC_000012.12:g.56041685T>A , CM000674.2:g.56041685T>A | GRCh38 |
NC_000012.11:g.56435469T>A , CM000674.1:g.56435469T>A | GRCh37 |
NC_000012.10:g.54721736T>A | NCBI36 |
NG_023201.1:g.4784T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356464.10:c.-356-126T>A | ENSP00000348849.5:n.-356-126T>A | |
XR_944989.1:n.28A>T | ||
XR_944990.1:n.28A>T | ||
XR_944989.3:n.319A>T | ||
XR_944990.3:n.319A>T |