Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.80183160C>T , CM000670.2:g.80183160C>T | GRCh38 |
| NC_000008.10:g.81095395C>T , CM000670.1:g.81095395C>T | GRCh37 |
| NC_000008.9:g.81257950C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000519250.5:n.235+35309G>A | |
| ENST00000520035.5:n.176-4881G>A | |
| ENST00000523564.2:n.63-22G>A | |
| ENST00000602950.1:n.223-22G>A | |
| XR_929092.1:n.557-22G>A | |
| XR_929092.2:n.590-22G>A | |
| XR_929093.1:n.557-22G>A | |
| XR_929093.2:n.590-22G>A | |
| XR_929095.1:n.557-22G>A | |
| XR_929095.2:n.591-22G>A |