HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54221414C>A , CM000666.2:g.54221414C>A | GRCh38 |
NC_000004.11:g.55087581C>A , CM000666.1:g.55087581C>A | GRCh37 |
NC_000004.10:g.54782338C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000493291.1:n.289C>A | ||
ENST00000507166.5:c.1018-53511C>A | ENSP00000423325.1:n.1018-53511C>A |