gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001304 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001181 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189110224C>G , CM000664.2:g.189110224C>G | GRCh38 |
| NC_000002.11:g.189974950C>G , CM000664.1:g.189974950C>G | GRCh37 |
| NC_000002.10:g.189683195C>G | NCBI36 |
| NG_011799.1:g.74656G>C | |
| NG_011799.2:g.74656G>C | |
| NG_011799.3:g.120078G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.322+1G>C MANE Select | ENSP00000364000.3:n.322+1G>C | |
| ENST00000649966.1:c.184+1G>C | ENSP00000496785.1:n.184+1G>C | |
| ENST00000374866.7:c.322+1G>C | ENSP00000364000.3:n.322+1G>C | |
| ENST00000618828.1:c.-309+1G>C | ENSP00000482184.1:n.-309+1G>C | |
| NM_000393.3:c.322+1G>C | NP_000384.2:n.322+1G>C | |
| XM_011510573.1:c.184+1G>C | XP_011508875.1:n.184+1G>C | |
| NM_000393.4:c.322+1G>C | NP_000384.2:n.322+1G>C | |
| XM_011510573.3:c.184+1G>C | XP_011508875.1:n.184+1G>C | |
| NM_000393.5:c.322+1G>C MANE Select | NP_000384.2:n.322+1G>C |