Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.20145600T>G , CM000671.2:g.20145600T>G | GRCh38 |
| NC_000009.11:g.20145598T>G , CM000671.1:g.20145598T>G | GRCh37 |
| NC_000009.10:g.20135598T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017014592.1:c.-528-141213A>C | XP_016870081.1:n.-528-141213A>C |