Canonical Allele Identifier:
CA1003091243
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.72372846A>T , CM000663.2:g.72372846A>T | GRCh38 |
| NC_000001.10:g.72838529A>T , CM000663.1:g.72838529A>T | GRCh37 |
| NC_000001.9:g.72611117A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947505.1:n.310+89441A>T | ||
| XR_947506.1:n.310+89441A>T | ||
| XR_947507.1:n.310+89441A>T | ||
| XR_001737670.1:n.414+89441A>T | ||
| XR_001737671.2:n.418+89441A>T | ||
| XR_947505.2:n.414+89441A>T | ||
| XR_947506.2:n.414+89441A>T |