gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00838828 (EAS)
Genomes Max Group AF
0.00924099 (EAS)
Exomes Max Group AF
0.00185819 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.65495868T>C , CM000668.2:g.65495868T>C | GRCh38 |
| NC_000006.11:g.66205761T>C , CM000668.1:g.66205761T>C | GRCh37 |
| NC_000006.10:g.66262482T>C | NCBI36 |
| NG_023443.1:g.216358A>G | |
| NG_023443.2:g.216358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.-207A>G MANE Select | ENSP00000424243.1:n.-207A>G | |
| ENST00000342421.9:c.-207A>G | ENSP00000341818.5:n.-207A>G | |
| ENST00000370621.7:c.-207A>G | ENSP00000359655.3:n.-207A>G | |
| ENST00000393380.6:c.-207A>G | ENSP00000377042.2:n.-207A>G | |
| ENST00000471279.1:c.-403A>G | ENSP00000420530.1:n.-403A>G | |
| ENST00000489873.1:n.321A>G | ||
| ENST00000503581.5:c.-207A>G | ENSP00000424243.1:n.-207A>G | |
| NM_001142800.1:c.-207A>G | NP_001136272.1:n.-207A>G | |
| NM_001142801.1:c.-207A>G | NP_001136273.1:n.-207A>G | |
| NM_001292009.1:c.-207A>G | NP_001278938.1:n.-207A>G | |
| NM_198283.1:c.-207A>G | NP_938024.1:n.-207A>G | |
| NM_001142800.2:c.-207A>G MANE Select | NP_001136272.1:n.-207A>G | |
| NM_001142801.2:c.-207A>G | NP_001136273.1:n.-207A>G | |
| NM_001292009.2:c.-207A>G | NP_001278938.1:n.-207A>G | |
| NM_198283.2:c.-207A>G | NP_938024.1:n.-207A>G |