gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74718703 (EAS)
Genomes Max Group AF
0.74718703 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93907322T>C , CM000663.2:g.93907322T>C | GRCh38 |
| NC_000001.10:g.94372878T>C , CM000663.1:g.94372878T>C | GRCh37 |
| NC_000001.9:g.94145466T>C | NCBI36 |
| NG_012072.1:g.7135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370238.8:c.126+1716A>G MANE Select | ENSP00000359258.3:n.126+1716A>G | |
| ENST00000370238.7:c.126+1716A>G | ENSP00000359258.3:n.126+1716A>G | |
| ENST00000462183.1:n.260+1343A>G | ||
| ENST00000467772.1:n.126+1343A>G | ||
| ENST00000615724.1:c.126+1716A>G | ENSP00000484507.1:n.126+1716A>G | |
| NM_001308253.1:c.126+1716A>G | NP_001295182.1:n.126+1716A>G | |
| NM_002061.2:c.126+1716A>G | NP_002052.1:n.126+1716A>G | |
| NM_002061.3:c.126+1716A>G | NP_002052.1:n.126+1716A>G | |
| XM_011541261.1:c.-139+1343A>G | XP_011539563.1:n.-139+1343A>G | |
| XM_011541261.2:c.-139+1343A>G | XP_011539563.1:n.-139+1343A>G | |
| XM_017001056.2:c.126+1716A>G | XP_016856545.1:n.126+1716A>G | |
| XM_017001057.2:c.126+1716A>G | XP_016856546.1:n.126+1716A>G | |
| NM_002061.4:c.126+1716A>G MANE Select | NP_002052.1:n.126+1716A>G | |
| NM_001308253.2:c.126+1716A>G | NP_001295182.1:n.126+1716A>G |