Canonical Allele Identifier:
CA136854101
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01302682 (AFR)
Genomes Max Group AF
0.01302682 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31559979G>A , CM000668.2:g.31559979G>A | GRCh38 |
| NC_000006.11:g.31527756G>A , CM000668.1:g.31527756G>A | GRCh37 |
| NC_000006.10:g.31635735G>A | NCBI36 |
| NG_012344.1:g.18129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926695.1:n.117-9420C>T | ||
| NR_149045.1:n.865C>T |