HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12384317A>G , CM000686.2:g.12384317A>G | GRCh38 |
NC_000024.9:g.14496120A>G , CM000686.1:g.14496120A>G | GRCh37 |
NC_000024.8:g.13006128A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382965.3:n.317-5568T>C (GYG2P1) | ||
ENST00000689264.1:n.402-5568T>C (GYG2P1) | ||
ENST00000443820.2:n.1295A>G (ARSDP1) | ||
ENST00000651802.1:n.450+22067T>C (GYG2P1) | ||
ENST00000651835.1:n.319+22479T>C (GYG2P1) | ||
ENST00000382966.5:n.283+22479T>C (GYG2P1) | ||
ENST00000443820.1:n.743A>G (ARSDP1) | ||
ENST00000493160.5:n.803-987T>C (GYG2P1) | ||
XR_001756061.1:n.609-5568T>C |