Canonical Allele Identifier:
CA11360318
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30294145 (NFE)
Genomes Max Group AF
0.30294145 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49358927T>C , CM000665.2:g.49358927T>C | GRCh38 |
| NC_000003.11:g.49396360T>C , CM000665.1:g.49396360T>C | GRCh37 |
| NC_000003.10:g.49371364T>C | NCBI36 |
| NG_012264.1:g.4432A>G | |
| NG_051308.1:g.58171A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704379.1:n.14A>G | ||
| ENST00000704380.1:n.85+130A>G | ||
| ENST00000704381.1:c.465-1180A>G | ENSP00000515884.1:n.465-1180A>G |