HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12383369T= , CM000686.2:g.12383369T= | GRCh38 |
NC_000024.9:g.14495172T= , CM000686.1:g.14495172T= | GRCh37 |
NC_000024.8:g.13005180T= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-4620A= (GYG2P1) | ||
ENST00000689264.1:n.402-4620A= (GYG2P1) | ||
ENST00000443820.2:n.1286+66T= (ARSDP1) | ||
ENST00000651802.1:n.450+23015A= (GYG2P1) | ||
ENST00000651835.1:n.319+23427A= (GYG2P1) | ||
ENST00000382966.5:n.283+23427A= (GYG2P1) | ||
ENST00000443820.1:n.734+66T= (ARSDP1) | ||
ENST00000493160.5:n.803-39A= (GYG2P1) | ||
XR_001756061.1:n.609-4620A= |