HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12387258A>C , CM000686.2:g.12387258A>C | GRCh38 |
NC_000024.9:g.14499053A>C , CM000686.1:g.14499053A>C | GRCh37 |
NC_000024.8:g.13009061A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-8509T>G (GYG2P1) | ||
ENST00000689264.1:n.402-8509T>G (GYG2P1) | ||
ENST00000443820.2:n.1697A>C (ARSDP1) | ||
ENST00000651802.1:n.450+19126T>G (GYG2P1) | ||
ENST00000651835.1:n.319+19538T>G (GYG2P1) | ||
ENST00000382966.5:n.283+19538T>G (GYG2P1) | ||
ENST00000443820.1:n.1145A>C (ARSDP1) | ||
ENST00000493160.5:n.803-3928T>G (GYG2P1) | ||
XR_001756061.1:n.609-8509T>G |