ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005723 (NFE)
Genomes Max Group AF
0.00012411 (NFE)
Exomes Max Group AF
0.00004899 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156874891C>G , CM000663.2:g.156874891C>G | GRCh38 |
| NC_000001.10:g.156844683C>G , CM000663.1:g.156844683C>G | GRCh37 |
| NC_000001.9:g.155111307C>G | NCBI36 |
| NG_007493.1:g.64142C>G , LRG_261:g.64142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1072-15C>G | ENSP00000502725.1:n.1072-15C>G | |
| ENST00000392302.7:c.1072-15C>G | ENSP00000376120.3:n.1072-15C>G | |
| ENST00000497019.7:c.939-15C>G | ENSP00000436804.2:n.939-15C>G | |
| ENST00000524377.7:c.1252-15C>G MANE Select | ENSP00000431418.1:n.1252-15C>G | |
| ENST00000674537.1:c.1072-15C>G | ENSP00000502725.1:n.1072-15C>G | |
| ENST00000358660.3:c.1234-15C>G | ENSP00000351486.3:n.1234-15C>G | |
| ENST00000368196.7:c.1234-15C>G | ENSP00000357179.3:n.1234-15C>G | |
| ENST00000392302.6:c.1144-15C>G | ENSP00000376120.2:n.1144-15C>G | |
| ENST00000497019.6:c.1011-15C>G | ENSP00000436804.1:n.1011-15C>G | |
| ENST00000524377.5:c.1252-15C>G | ENSP00000431418.1:n.1252-15C>G | |
| ENST00000530298.5:n.1292-15C>G | ||
| ENST00000534682.1:n.475-15C>G | ||
| NM_001007792.1:c.1144-15C>G , LRG_261t1:c.1144-15C>G | NP_001007793.1:n.1144-15C>G | |
| NM_001012331.1:c.1234-15C>G , LRG_261t2:c.1234-15C>G | NP_001012331.1:n.1234-15C>G | |
| NM_002529.3:c.1252-15C>G , LRG_261t3:c.1252-15C>G | NP_002520.2:n.1252-15C>G | |
| NM_001012331.2:c.1234-15C>G | NP_001012331.1:n.1234-15C>G | |
| NM_002529.4:c.1252-15C>G MANE Select | NP_002520.2:n.1252-15C>G |