Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269354C>T , CM000666.2:g.6269354C>T | GRCh38 |
| NC_000004.11:g.6271081C>T , CM000666.1:g.6271081C>T | GRCh37 |
| NC_000004.10:g.6321982C>T | NCBI36 |
| NG_011700.1:g.4505C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017008586.1:c.4+7715C>T | XP_016864075.1:n.4+7715C>T |