Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77463665A>G , CM000668.2:g.77463665A>G | GRCh38 |
| NC_000006.11:g.78173382A>G , CM000668.1:g.78173382A>G | GRCh37 |
| NC_000006.10:g.78230101A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000863.2:c.-262T>C | NP_000854.1:n.-262T>C | |
| XR_942706.1:n.545-10861A>G | ||
| XR_942707.1:n.545-10861A>G | ||
| XR_942708.1:n.545-10861A>G | ||
| XR_942709.1:n.545-10861A>G | ||
| XR_942708.2:n.545-10861A>G |