HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12379906A>C , CM000686.2:g.12379906A>C | GRCh38 |
NC_000024.9:g.14491709A>C , CM000686.1:g.14491709A>C | GRCh37 |
NC_000024.8:g.13001717A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-1157T>G (GYG2P1) | ||
ENST00000689264.1:n.402-1157T>G (GYG2P1) | ||
ENST00000443820.2:n.989+2084A>C (ARSDP1) | ||
ENST00000651802.1:n.450+26478T>G (GYG2P1) | ||
ENST00000651835.1:n.319+26890T>G (GYG2P1) | ||
ENST00000382966.5:n.284-25135T>G (GYG2P1) | ||
ENST00000443820.1:n.438-2430A>C (ARSDP1) | ||
XR_001756061.1:n.609-1157T>G |