HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54221388T>G , CM000666.2:g.54221388T>G | GRCh38 |
NC_000004.11:g.55087555T>G , CM000666.1:g.55087555T>G | GRCh37 |
NC_000004.10:g.54782312T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000493291.1:n.263T>G | ||
ENST00000507166.5:c.1018-53537T>G | ENSP00000423325.1:n.1018-53537T>G |