HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12363659G>T , CM000686.2:g.12363659G>T | GRCh38 |
NC_000024.9:g.14484390G>T , CM000686.1:g.14484390G>T | GRCh37 |
NC_000024.8:g.12994398G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000443820.2:n.193+1285G>T (ARSDP1) | ||
ENST00000651802.1:n.450+42725C>A (GYG2P1) | ||
ENST00000651835.1:n.319+43137C>A (GYG2P1) | ||
ENST00000382966.5:n.284-8888C>A (GYG2P1) | ||
ENST00000443820.1:n.193+1285G>T (ARSDP1) | ||
XR_001756060.1:n.54C>A |