gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6999103 (MID)
Genomes Max Group AF
0.66545536 (NFE)
Exomes Max Group AF
0.69535988 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131137217A>G , CM000674.2:g.131137217A>G | GRCh38 |
| NC_000012.11:g.131621762A>G , CM000674.1:g.131621762A>G | GRCh37 |
| NC_000012.10:g.130187715A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261654.10:c.2436+203A>G MANE Select | ENSP00000261654.5:n.2436+203A>G | |
| ENST00000261654.9:c.2436+203A>G | ENSP00000261654.5:n.2436+203A>G | |
| ENST00000335486.10:c.282+203A>G | ENSP00000334127.7:n.282+203A>G | |
| ENST00000376682.8:n.1749+203A>G | ||
| ENST00000446583.6:c.786+203A>G | ENSP00000482235.1:n.786+203A>G | |
| ENST00000535015.5:c.2532+203A>G | ENSP00000444425.1:n.2532+203A>G | |
| ENST00000540207.1:n.303+203A>G | ||
| ENST00000543617.2:c.993+203A>G | ENSP00000438021.1:n.993+203A>G | |
| NM_198827.3:c.2436+203A>G | NP_942122.2:n.2436+203A>G | |
| XM_005253566.1:c.2256+203A>G | XP_005253623.1:n.2256+203A>G | |
| XM_011538203.1:c.2532+203A>G | XP_011536505.1:n.2532+203A>G | |
| XM_011538204.1:c.2532+203A>G | XP_011536506.1:n.2532+203A>G | |
| XM_011538205.1:c.2352+203A>G | XP_011536507.1:n.2352+203A>G | |
| XM_011538206.1:c.2316+203A>G | XP_011536508.1:n.2316+203A>G | |
| XM_011538208.1:c.2097+203A>G | XP_011536510.1:n.2097+203A>G | |
| XM_011538209.1:c.2028+203A>G | XP_011536511.1:n.2028+203A>G | |
| XM_011538211.1:c.1524+203A>G | XP_011536513.1:n.1524+203A>G | |
| XM_011538212.1:c.1302+203A>G | XP_011536514.1:n.1302+203A>G | |
| NM_001330497.1:c.2532+203A>G | NP_001317426.1:n.2532+203A>G | |
| NM_198827.4:c.2436+203A>G | NP_942122.2:n.2436+203A>G | |
| XM_005253566.2:c.2256+203A>G | XP_005253623.1:n.2256+203A>G | |
| XM_011538204.2:c.2532+203A>G | XP_011536506.1:n.2532+203A>G | |
| XM_011538205.2:c.2352+203A>G | XP_011536507.1:n.2352+203A>G | |
| XM_011538206.2:c.2316+203A>G | XP_011536508.1:n.2316+203A>G | |
| XM_011538208.2:c.2097+203A>G | XP_011536510.1:n.2097+203A>G | |
| XM_011538209.2:c.2028+203A>G | XP_011536511.1:n.2028+203A>G | |
| XM_011538211.2:c.1524+203A>G | XP_011536513.1:n.1524+203A>G | |
| XM_011538212.2:c.1302+203A>G | XP_011536514.1:n.1302+203A>G | |
| NM_198827.5:c.2436+203A>G MANE Select | NP_942122.2:n.2436+203A>G | |
| NM_001330497.2:c.2532+203A>G | NP_001317426.1:n.2532+203A>G |