HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384340C>A , CM000686.2:g.12384340C>A | GRCh38 |
NC_000024.9:g.14496143C>A , CM000686.1:g.14496143C>A | GRCh37 |
NC_000024.8:g.13006151C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382965.3:n.317-5591G>T (GYG2P1) | ||
ENST00000689264.1:n.402-5591G>T (GYG2P1) | ||
ENST00000443820.2:n.1318C>A (ARSDP1) | ||
ENST00000651802.1:n.450+22044G>T (GYG2P1) | ||
ENST00000651835.1:n.319+22456G>T (GYG2P1) | ||
ENST00000382966.5:n.283+22456G>T (GYG2P1) | ||
ENST00000443820.1:n.766C>A (ARSDP1) | ||
ENST00000493160.5:n.803-1010G>T (GYG2P1) | ||
XR_001756061.1:n.609-5591G>T |