Canonical Allele Identifier:
CA818601248
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002262 (AMR)
Genomes Max Group AF
0.00002262 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126645162T>G , CM000668.2:g.126645162T>G | GRCh38 |
| NC_000006.11:g.126966308T>G , CM000668.1:g.126966308T>G | GRCh37 |
| NC_000006.10:g.127008001T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650727.1:n.1167-23289A>C | ||
| ENST00000651326.1:n.694-41697A>C | ||
| ENST00000652545.1:n.1477-23289A>C |