Canonical Allele Identifier:
CA786695539
Gene:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.12578174T>G , CM000666.2:g.12578174T>G | GRCh38 |
| NC_000004.11:g.12579798T>G , CM000666.1:g.12579798T>G | GRCh37 |
| NC_000004.10:g.12188896T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925406.1:n.106+31168A>C | ||
| XR_001741374.1:n.254+44481A>C | ||
| XR_925406.3:n.140+31168A>C |