gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035644 (NFE)
Genomes Max Group AF
0.00035644 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71785018A>C , CM000666.2:g.71785018A>C | GRCh38 |
| NC_000004.11:g.72650735A>C , CM000666.1:g.72650735A>C | GRCh37 |
| NC_000004.10:g.72869599A>C | NCBI36 |
| NG_012837.2:g.25503T>G | |
| NG_012837.3:g.25503T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-964T>G | ENSP00000421725.1:n.22-964T>G | |
| ENST00000506245.1:c.-37+902T>G | ENSP00000426718.1:n.-37+902T>G | |
| NM_001204306.1:c.-36-964T>G | NP_001191235.1:n.-36-964T>G | |
| NM_001204307.1:c.22-964T>G | NP_001191236.1:n.22-964T>G |