HGVS | Genome Assembly |
---|---|
NC_000004.12:g.144601517G>A , CM000666.2:g.144601517G>A | GRCh38 |
NC_000004.11:g.145522669G>A , CM000666.1:g.145522669G>A | GRCh37 |
NC_000004.10:g.145742119G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649263.1:c.328-185539C>T | ENSP00000497507.1:n.328-185539C>T |