Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269344T>C , CM000666.2:g.6269344T>C | GRCh38 |
| NC_000004.11:g.6271071T>C , CM000666.1:g.6271071T>C | GRCh37 |
| NC_000004.10:g.6321972T>C | NCBI36 |
| NG_011700.1:g.4495T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017008586.1:c.4+7705T>C | XP_016864075.1:n.4+7705T>C |