HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384403C>G , CM000686.2:g.12384403C>G | GRCh38 |
NC_000024.9:g.14496206C>G , CM000686.1:g.14496206C>G | GRCh37 |
NC_000024.8:g.13006214C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-5654G>C (GYG2P1) | ||
ENST00000689264.1:n.402-5654G>C (GYG2P1) | ||
ENST00000443820.2:n.1381C>G (ARSDP1) | ||
ENST00000651802.1:n.450+21981G>C (GYG2P1) | ||
ENST00000651835.1:n.319+22393G>C (GYG2P1) | ||
ENST00000382966.5:n.283+22393G>C (GYG2P1) | ||
ENST00000443820.1:n.829C>G (ARSDP1) | ||
ENST00000493160.5:n.803-1073G>C (GYG2P1) | ||
XR_001756061.1:n.609-5654G>C |