Genomic Alleles
| 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 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000493291.1:n.289C>A | |
| ENST00000507166.5:c.1018-53511C>A | ENSP00000423325.1:n.1018-53511C>A |