HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12379713A= , CM000686.2:g.12379713A= | GRCh38 |
NC_000024.9:g.14491516A= , CM000686.1:g.14491516A= | GRCh37 |
NC_000024.8:g.13001524A= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382965.3:n.317-964T= (GYG2P1) | ||
ENST00000689264.1:n.402-964T= (GYG2P1) | ||
ENST00000443820.2:n.989+1891A= (ARSDP1) | ||
ENST00000651802.1:n.450+26671T= (GYG2P1) | ||
ENST00000651835.1:n.319+27083T= (GYG2P1) | ||
ENST00000382966.5:n.284-24942T= (GYG2P1) | ||
ENST00000443820.1:n.438-2623A= (ARSDP1) | ||
XR_001756061.1:n.609-964T= |