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