ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00169311 (NFE)
Genomes Max Group AF
0.00127728 (NFE)
Exomes Max Group AF
0.00170592 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16915812T>C , CM000672.2:g.16915812T>C | GRCh38 |
| NC_000010.10:g.16957811T>C , CM000672.1:g.16957811T>C | GRCh37 |
| NC_000010.9:g.16997817T>C | NCBI36 |
| NG_008967.1:g.219006A>G , LRG_540:g.219006A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.7210+9A>G MANE Select | ENSP00000367064.4:n.7210+9A>G | |
| ENST00000377833.8:c.7210+9A>G | ENSP00000367064.4:n.7210+9A>G | |
| NM_001081.3:c.7210+9A>G , LRG_540t1:c.7210+9A>G | NP_001072.2:n.7210+9A>G | |
| XM_011519708.1:c.7210+9A>G | XP_011518010.1:n.7210+9A>G | |
| XM_011519709.1:c.3196+9A>G | XP_011518011.1:n.3196+9A>G | |
| XM_011519710.1:c.3172+9A>G | XP_011518012.1:n.3172+9A>G | |
| XM_011519711.1:c.3052+9A>G | XP_011518013.1:n.3052+9A>G | |
| XM_011519708.2:c.7210+9A>G | XP_011518010.1:n.7210+9A>G | |
| XM_011519709.2:c.3196+9A>G | XP_011518011.1:n.3196+9A>G | |
| XM_011519710.2:c.3172+9A>G | XP_011518012.1:n.3172+9A>G | |
| XM_011519711.3:c.3052+9A>G | XP_011518013.1:n.3052+9A>G | |
| NM_001081.4:c.7210+9A>G MANE Select | NP_001072.2:n.7210+9A>G |