gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24504867A>G , CM000668.2:g.24504867A>G | GRCh38 |
| NC_000006.11:g.24505095A>G , CM000668.1:g.24505095A>G | GRCh37 |
| NC_000006.10:g.24613074A>G | NCBI36 |
| NG_008161.1:g.14899A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.610-2A>G MANE Select | ENSP00000350191.3:n.610-2A>G | |
| ENST00000672352.1:c.373-2A>G | ENSP00000500876.1:n.373-2A>G | |
| ENST00000672557.1:c.528-2A>G | ||
| ENST00000672652.1:c.531-2A>G | ||
| ENST00000675422.1:n.1370-2A>G | ||
| ENST00000348925.2:c.610-2A>G | ENSP00000314649.3:n.610-2A>G | |
| ENST00000357578.7:c.610-2A>G | ENSP00000350191.3:n.610-2A>G | |
| ENST00000491546.5:c.526-2A>G | ENSP00000417687.1:n.526-2A>G | |
| NM_001080.3:c.610-2A>G MANE Select | NP_001071.1:n.610-2A>G | |
| NM_170740.1:c.610-2A>G | NP_733936.1:n.610-2A>G | |
| NM_001368954.1:c.610-2A>G | NP_001355883.1:n.610-2A>G |