Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137850329A>C , CM000668.2:g.137850329A>C | GRCh38 |
| NC_000006.11:g.138171466A>C , CM000668.1:g.138171466A>C | GRCh37 |
| NC_000006.10:g.138213159A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_049793.1:n.1056+14830T>G | ||
| XR_943060.1:n.282-3170A>C | ||
| XR_001744379.1:n.8894T>G | ||
| XR_002956370.1:n.10692T>G |