ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00311009 (AFR)
Genomes Max Group AF
0.00309276 (AFR)
Exomes Max Group AF
0.00281823 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31083782A>G , CM000670.2:g.31083782A>G | GRCh38 |
| NC_000008.10:g.30941298A>G , CM000670.1:g.30941298A>G | GRCh37 |
| NC_000008.9:g.31060840A>G | NCBI36 |
| NG_008870.1:g.55521A>G , LRG_524:g.55521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.1350+3A>G MANE Select | ENSP00000298139.5:n.1350+3A>G | |
| ENST00000650667.1:c.*964+3A>G | ENSP00000498593.1:n.*964+3A>G | |
| ENST00000651642.1:c.565-1384A>G | ENSP00000498779.1:n.565-1384A>G | |
| ENST00000298139.5:c.1350+3A>G | ENSP00000298139.5:n.1350+3A>G | |
| NM_000553.4:c.1350+3A>G , LRG_524t1:c.1350+3A>G | NP_000544.2:n.1350+3A>G | |
| XM_011544639.1:c.1350+3A>G | XP_011542941.1:n.1350+3A>G | |
| XR_949470.1:n.1623+3A>G | ||
| XR_949471.1:n.1623+3A>G | ||
| XR_949472.1:n.1623+3A>G | ||
| NM_000553.5:c.1350+3A>G | NP_000544.2:n.1350+3A>G | |
| XM_011544639.3:c.1350+3A>G | XP_011542941.1:n.1350+3A>G | |
| XM_024447265.1:c.1140+3A>G | XP_024303033.1:n.1140+3A>G | |
| XR_949470.3:n.1651+3A>G | ||
| XR_949471.3:n.1651+3A>G | ||
| XR_949472.3:n.1651+3A>G | ||
| NM_000553.6:c.1350+3A>G MANE Select | NP_000544.2:n.1350+3A>G |