Canonical Allele Identifier:
CA757723978
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.138914385G>T , CM000664.2:g.138914385G>T | GRCh38 |
| NC_000002.11:g.139671955G>T , CM000664.1:g.139671955G>T | GRCh37 |
| NC_000002.10:g.139388425G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923370.1:n.265+2259C>A | ||
| XR_923370.2:n.278+2259C>A |