Canonical Allele Identifier:
CA15464706
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95060166 (EAS)
Genomes Max Group AF
0.95060166 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126530014C>T , CM000668.2:g.126530014C>T | GRCh38 |
| NC_000006.11:g.126851160C>T , CM000668.1:g.126851160C>T | GRCh37 |
| NC_000006.10:g.126892853C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650727.1:n.3036+1649G>A | ||
| ENST00000651326.1:n.2289+43758G>A | ||
| ENST00000652383.1:n.630+1649G>A | ||
| ENST00000652545.1:n.3346+1649G>A |