Canonical Allele Identifier:
CA816299066
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100947531G>T , CM000668.2:g.100947531G>T | GRCh38 |
| NC_000006.11:g.101395407G>T , CM000668.1:g.101395407G>T | GRCh37 |
| NC_000006.10:g.101502128G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942816.1:n.296-15155G>T | ||
| XR_942817.1:n.296-15155G>T | ||
| XR_002956381.1:n.130-15155G>T | ||
| XR_002956382.1:n.130-15155G>T | ||
| XR_002956383.1:n.136-15155G>T |