HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54228300G>A , CM000666.2:g.54228300G>A | GRCh38 |
NC_000004.11:g.55094467G>A , CM000666.1:g.55094467G>A | GRCh37 |
NC_000004.10:g.54789224G>A | NCBI36 |
NG_009250.1:g.4204G>A , LRG_309:g.4204G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000507166.5:c.1018-46625G>A | ENSP00000423325.1:n.1018-46625G>A |