Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269343T>G , CM000666.2:g.6269343T>G | GRCh38 |
| NC_000004.11:g.6271070T>G , CM000666.1:g.6271070T>G | GRCh37 |
| NC_000004.10:g.6321971T>G | NCBI36 |
| NG_011700.1:g.4494T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017008586.1:c.4+7704T>G | XP_016864075.1:n.4+7704T>G |