HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384341T>C , CM000686.2:g.12384341T>C | GRCh38 |
NC_000024.9:g.14496144T>C , CM000686.1:g.14496144T>C | GRCh37 |
NC_000024.8:g.13006152T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382965.3:n.317-5592A>G (GYG2P1) | ||
ENST00000689264.1:n.402-5592A>G (GYG2P1) | ||
ENST00000443820.2:n.1319T>C (ARSDP1) | ||
ENST00000651802.1:n.450+22043A>G (GYG2P1) | ||
ENST00000651835.1:n.319+22455A>G (GYG2P1) | ||
ENST00000382966.5:n.283+22455A>G (GYG2P1) | ||
ENST00000443820.1:n.767T>C (ARSDP1) | ||
ENST00000493160.5:n.803-1011A>G (GYG2P1) | ||
XR_001756061.1:n.609-5592A>G |