Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33136398T>C , CM000668.2:g.33136398T>C | GRCh38 |
| NC_000006.11:g.33104175T>C , CM000668.1:g.33104175T>C | GRCh37 |
| NC_000006.10:g.33212153T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000454398.1:n.103-5056A>G | |
| XR_001744086.1:n.456-2089A>G | |
| XR_926701.1:n.440-2089A>G | |
| XR_926702.1:n.201-2089A>G | |
| XR_926703.1:n.440-2089A>G | |
| XR_926703.2:n.450-2089A>G |