Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96412679G>T , CM000668.2:g.96412679G>T | GRCh38 |
| NC_000006.11:g.96860555G>T , CM000668.1:g.96860555G>T | GRCh37 |
| NC_000006.10:g.96967276G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956363.1:n.9203-43199C>A |