Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137850386G>T , CM000668.2:g.137850386G>T | GRCh38 |
| NC_000006.11:g.138171523G>T , CM000668.1:g.138171523G>T | GRCh37 |
| NC_000006.10:g.138213216G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_049793.1:n.1056+14773C>A | ||
| XR_943060.1:n.282-3113G>T | ||
| XR_001744379.1:n.8837C>A | ||
| XR_002956370.1:n.10635C>A |