HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384906C>A , CM000686.2:g.12384906C>A | GRCh38 |
NC_000024.9:g.14496701C>A , CM000686.1:g.14496701C>A | GRCh37 |
NC_000024.8:g.13006709C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382965.3:n.317-6157G>T (GYG2P1) | ||
ENST00000689264.1:n.402-6157G>T (GYG2P1) | ||
ENST00000443820.2:n.1408+476C>A (ARSDP1) | ||
ENST00000651802.1:n.450+21478G>T (GYG2P1) | ||
ENST00000651835.1:n.319+21890G>T (GYG2P1) | ||
ENST00000382966.5:n.283+21890G>T (GYG2P1) | ||
ENST00000443820.1:n.856+476C>A (ARSDP1) | ||
ENST00000493160.5:n.803-1576G>T (GYG2P1) | ||
XR_001756061.1:n.609-6157G>T |