Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.11962338C>T , CM000673.2:g.11962338C>T | GRCh38 |
| NC_000011.9:g.11983885C>T , CM000673.1:g.11983885C>T | GRCh37 |
| NC_000011.8:g.11940461C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000396505.7:c.*2126G>A | ENSP00000379762.2:n.*2126G>A |