Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47910736A>G , CM000674.2:g.47910736A>G | GRCh38 |
| NC_000012.11:g.48304519A>G , CM000674.1:g.48304519A>G | GRCh37 |
| NC_000012.10:g.46590786A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395324.6:c.-83-27962T>C | ENSP00000378734.2:n.-83-27962T>C |