HGVS | Genome Assembly |
---|---|
NC_000004.12:g.144559692A>G , CM000666.2:g.144559692A>G | GRCh38 |
NC_000004.11:g.145480844A>G , CM000666.1:g.145480844A>G | GRCh37 |
NC_000004.10:g.145700294A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649263.1:c.328-143714T>C | ENSP00000497507.1:n.328-143714T>C | |
XR_939272.1:n.178+2292T>C | ||
XR_939273.1:n.178+2292T>C | ||
XR_939272.2:n.522+2292T>C | ||
XR_939273.2:n.522+2292T>C |