Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137850348A>G , CM000668.2:g.137850348A>G | GRCh38 |
| NC_000006.11:g.138171485A>G , CM000668.1:g.138171485A>G | GRCh37 |
| NC_000006.10:g.138213178A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_049793.1:n.1056+14811T>C | ||
| XR_943060.1:n.282-3151A>G | ||
| XR_001744379.1:n.8875T>C | ||
| XR_002956370.1:n.10673T>C |