HGVS | Genome Assembly |
---|---|
NC_000004.12:g.144559483G>A , CM000666.2:g.144559483G>A | GRCh38 |
NC_000004.11:g.145480635G>A , CM000666.1:g.145480635G>A | GRCh37 |
NC_000004.10:g.145700085G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649263.1:c.328-143505C>T | ENSP00000497507.1:n.328-143505C>T | |
XR_939272.1:n.178+2501C>T | ||
XR_939273.1:n.178+2501C>T | ||
XR_939272.2:n.522+2501C>T | ||
XR_939273.2:n.522+2501C>T |