gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00480052 (NFE)
Genomes Max Group AF
0.0048425 (NFE)
Exomes Max Group AF
0.00477328 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48529751C>T , CM000679.2:g.48529751C>T | GRCh38 |
| NC_000017.10:g.46607113C>T , CM000679.1:g.46607113C>T | GRCh37 |
| NC_000017.9:g.43962112C>T | NCBI36 |
| NG_032884.1:g.6160G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239174.7:c.702G>A MANE Select | ENSP00000355140.5:p.Val234= | |
| ENST00000239174.6:c.702G>A | ENSP00000355140.5:p.Val234= | |
| ENST00000577092.1:c.*455G>A | ENSP00000459066.1:n.*455G>A | |
| NM_002144.3:c.702G>A | NP_002135.2:p.Val234= | |
| NM_002144.4:c.702G>A MANE Select | NP_002135.2:p.Val234= |