Canonical Allele Identifier:
CA11404983
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42076044 (AMR)
Genomes Max Group AF
0.42076044 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52227015A>G , CM000665.2:g.52227015A>G | GRCh38 |
| NC_000003.11:g.52261031A>G , CM000665.1:g.52261031A>G | GRCh37 |
| NC_000003.10:g.52236071A>G | NCBI36 |
| NG_033933.1:g.4149T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478201.1:c.114-1380T>C | ||
| ENST00000494383.1:c.463+2646T>C |