Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40429494G>A , CM000674.2:g.40429494G>A | GRCh38 |
| NC_000012.11:g.40823296G>A , CM000674.1:g.40823296G>A | GRCh37 |
| NC_000012.10:g.39109563G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454784.10:c.2397-48G>A | ENSP00000508949.1:n.2397-48G>A | |
| ENST00000454784.9:n.2443-48G>A | ||
| NM_173600.2:c.2397-48G>A | NP_775871.2:n.2397-48G>A | |
| XR_944866.1:n.75-9183C>T | ||
| XR_944867.1:n.75-9183C>T | ||
| XR_944868.1:n.75-9183C>T | ||
| XR_944869.1:n.75-9183C>T | ||
| XR_944870.1:n.75-9183C>T | ||
| XR_944871.1:n.75-9183C>T | ||
| XR_944872.1:n.81-9183C>T | ||
| XR_944873.1:n.75-9183C>T | ||
| XR_001749087.1:n.75-9183C>T | ||
| XR_001749088.1:n.75-9183C>T | ||
| XR_944868.2:n.75-9183C>T | ||
| XR_944869.2:n.75-9183C>T |