ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00730027 (AFR)
Genomes Max Group AF
0.00753035 (AFR)
Exomes Max Group AF
0.00650999 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4086812C>G , CM000673.2:g.4086812C>G | GRCh38 |
| NC_000011.9:g.4108042C>G , CM000673.1:g.4108042C>G | GRCh37 |
| NC_000011.8:g.4064618C>G | NCBI36 |
| NG_016277.1:g.236110C>G , LRG_164:g.236110C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525403.6:c.1319+269C>G | ENSP00000432210.2:n.1319+269C>G | |
| ENST00000698909.1:n.2667C>G | ||
| ENST00000698910.1:c.1052+269C>G | ENSP00000514024.1:n.1052+269C>G | |
| ENST00000698911.1:c.1588C>G | ENSP00000514025.1:p.Pro530Ala | |
| ENST00000698912.1:c.1319+269C>G | ENSP00000514026.1:n.1319+269C>G | |
| ENST00000698913.1:c.1319+269C>G | ENSP00000514027.1:n.1319+269C>G | |
| ENST00000698915.1:c.1542-124C>G | ENSP00000514029.1:n.1542-124C>G | |
| ENST00000698916.1:c.1562+269C>G | ENSP00000514030.1:n.1562+269C>G | |
| ENST00000698918.1:c.*1242+269C>G | ENSP00000514031.1:n.*1242+269C>G | |
| ENST00000698919.1:c.*474+269C>G | ENSP00000514032.1:n.*474+269C>G | |
| ENST00000698920.1:n.841+269C>G | ||
| ENST00000526596.2:c.1634+269C>G MANE Select | ENSP00000433266.2:n.1634+269C>G | |
| ENST00000300737.8:c.1541+269C>G | ENSP00000300737.4:n.1541+269C>G | |
| ENST00000526156.1:n.339+269C>G | ||
| ENST00000526596.1:c.826+269C>G | ||
| ENST00000527651.5:c.1541+269C>G | ENSP00000436208.1:n.1541+269C>G | |
| ENST00000531332.1:n.409+269C>G | ||
| ENST00000533977.5:c.1022+269C>G | ENSP00000434767.1:n.1022+269C>G | |
| ENST00000616714.4:c.1810C>G | ENSP00000478059.1:p.Pro604Ala | |
| NM_001277961.1:c.1810C>G | NP_001264890.1:p.Pro604Ala | |
| NM_001277962.1:c.1541+269C>G | NP_001264891.1:n.1541+269C>G | |
| NM_003156.3:c.1541+269C>G , LRG_164t1:c.1541+269C>G | NP_003147.2:n.1541+269C>G | |
| NM_001277962.2:c.1541+269C>G | NP_001264891.1:n.1541+269C>G | |
| NM_001277961.3:c.1810C>G | NP_001264890.1:p.Pro604Ala | |
| NM_001382566.1:c.1588C>G | NP_001369495.1:p.Pro530Ala | |
| NM_001382567.1:c.1634+269C>G MANE Select | NP_001369496.1:n.1634+269C>G | |
| NM_001382568.1:c.1562+269C>G | NP_001369497.1:n.1562+269C>G | |
| NM_001382569.1:c.1406+269C>G | NP_001369498.1:n.1406+269C>G | |
| NM_001382570.1:c.1313+269C>G | NP_001369499.1:n.1313+269C>G | |
| NM_001382571.1:c.1061+269C>G | NP_001369500.1:n.1061+269C>G | |
| NM_001382575.1:c.1319+269C>G | NP_001369504.1:n.1319+269C>G | |
| NM_001382576.1:c.1319+269C>G | NP_001369505.1:n.1319+269C>G | |
| NM_001382577.1:c.1319+269C>G | NP_001369506.1:n.1319+269C>G | |
| NM_001382578.1:c.1319+269C>G | NP_001369507.1:n.1319+269C>G | |
| NM_001382579.1:c.1319+269C>G | NP_001369508.1:n.1319+269C>G | |
| NM_001382580.1:c.1052+269C>G | NP_001369509.1:n.1052+269C>G | |
| NM_001382581.1:c.1052+269C>G | NP_001369510.1:n.1052+269C>G | |
| NM_003156.4:c.1541+269C>G | NP_003147.2:n.1541+269C>G | |
| NR_168436.1:n.1465+269C>G | ||
| NR_168437.1:n.1970+269C>G | ||
| NR_168438.1:n.1792+269C>G |