Canonical Allele Identifier:
CA13492251
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66481494 (SAS)
Genomes Max Group AF
0.66481494 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164735T>G , CM000673.2:g.112164735T>G | GRCh38 |
| NC_000011.9:g.112035458T>G , CM000673.1:g.112035458T>G | GRCh37 |
| NC_000011.8:g.111540668T>G | NCBI36 |
| NG_028143.1:g.4383A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525987.5:n.320-5684T>G | ||
| ENST00000531744.5:c.315-5684T>G | ENSP00000456957.1:n.315-5684T>G | |
| ENST00000532699.1:c.315-5684T>G | ENSP00000456434.1:n.315-5684T>G |