Canonical Allele Identifier:
CA12173231
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20103047 (AFR)
Genomes Max Group AF
0.20103047 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132532143A>G , CM000667.2:g.132532143A>G | GRCh38 |
| NC_000005.9:g.131867835A>G , CM000667.1:g.131867835A>G | GRCh37 |
| NC_000005.8:g.131895734A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638452.2:c.-168-27141A>G | ENSP00000492349.2:n.-168-27141A>G | |
| ENST00000638504.1:n.207-27141A>G | ||
| ENST00000638568.2:c.-310-24189A>G | ENSP00000491158.2:n.-310-24189A>G | |
| ENST00000639899.1:n.290-27141A>G | ||
| ENST00000640655.2:c.-168-27141A>G | ENSP00000491596.2:n.-168-27141A>G |