gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016881 (SAS)
Genomes Max Group AF
0.00016881 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34583968G>C , CM000682.2:g.34583968G>C | GRCh38 |
| NC_000020.10:g.33171772G>C , CM000682.1:g.33171772G>C | GRCh37 |
| NC_000020.9:g.32635433G>C | NCBI36 |
| NG_011497.1:g.98318C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217446.8:c.926+1469C>G MANE Select | ENSP00000217446.3:n.926+1469C>G | |
| ENST00000217446.7:c.926+1469C>G | ENSP00000217446.3:n.926+1469C>G | |
| ENST00000374820.6:c.866+1469C>G | ENSP00000363953.2:n.866+1469C>G | |
| ENST00000438215.1:c.164+1469C>G | ENSP00000395755.1:n.164+1469C>G | |
| ENST00000480175.1:n.245-2296C>G | ||
| NM_080476.4:c.926+1469C>G | NP_536724.1:n.926+1469C>G | |
| XM_011528542.1:c.278+1469C>G | XP_011526844.1:n.278+1469C>G | |
| XM_011528542.2:c.278+1469C>G | XP_011526844.1:n.278+1469C>G | |
| XM_017027664.1:c.783-2296C>G | XP_016883153.1:n.783-2296C>G | |
| XR_001754162.1:n.978+1469C>G | ||
| XR_001754163.1:n.835-2296C>G | ||
| NM_080476.5:c.926+1469C>G MANE Select | NP_536724.1:n.926+1469C>G |