HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5232765C>T , CM000673.2:g.5232765C>T | GRCh38 |
NC_000011.9:g.5253995C>T , CM000673.1:g.5253995C>T | GRCh37 |
NC_000011.8:g.5210571C>T | NCBI36 |
NG_000007.3:g.64851G>A | |
NG_063112.2:g.15893G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000292901.7:c.349G>A | ENSP00000292901.3:p.Gly117Arg |