Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5711190G>T , CM000666.2:g.5711190G>T | GRCh38 |
| NC_000004.11:g.5712917G>T , CM000666.1:g.5712917G>T | GRCh37 |
| NC_000004.10:g.5763818G>T | NCBI36 |
| NG_008843.1:g.4994G>T | |
| NG_015821.1:g.3359C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011513419.1:c.-191G>T | XP_011511721.1:n.-191G>T | |
| XR_924928.1:n.2G>T |