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