Canonical Allele Identifier:
CA15190717
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31374926 (NFE)
Genomes Max Group AF
0.31374926 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.23191780A>G , CM000664.2:g.23191780A>G | GRCh38 |
| NC_000002.11:g.23414651A>G , CM000664.1:g.23414651A>G | GRCh37 |
| NC_000002.10:g.23268156A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_427008.2:n.296+7029T>C | ||
| XR_939820.1:n.296+7029T>C | ||
| XR_939821.1:n.296+7029T>C | ||
| XR_939822.1:n.296+7029T>C | ||
| XR_939823.1:n.296+7029T>C | ||
| XR_939824.1:n.296+7029T>C | ||
| XR_939825.1:n.296+7029T>C | ||
| XM_017005441.1:c.425+7029T>C | XP_016860930.1:n.425+7029T>C | |
| NR_171639.1:n.121+7029T>C |