Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321912A>G , CM000666.2:g.99321912A>G | GRCh38 |
| NC_000004.11:g.100243069A>G , CM000666.1:g.100243069A>G | GRCh37 |
| NC_000004.10:g.100462092A>G | NCBI36 |
| NG_011435.1:g.4504T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-3026T>C | ENSP00000491622.1:n.19-3026T>C |