COSMIC:
COSM4003694 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27587265 (EAS)
Genomes Max Group AF
0.24728311 (EAS)
Exomes Max Group AF
0.27834121 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137198643T>C , CM000668.2:g.137198643T>C | GRCh38 |
| NC_000006.11:g.137519780T>C , CM000668.1:g.137519780T>C | GRCh37 |
| NC_000006.10:g.137561473T>C | NCBI36 |
| NG_007394.1:g.25788A>G , LRG_66:g.25788A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.832-4A>G | ENSP00000394230.2:n.832-4A>G | |
| ENST00000458076.6:c.760-4A>G | ENSP00000389249.2:n.760-4A>G | |
| ENST00000696693.1:c.739-4A>G | ENSP00000512814.1:n.739-4A>G | |
| ENST00000696694.1:c.734-4A>G | ENSP00000512815.1:n.734-4A>G | |
| ENST00000696695.1:c.700-4A>G | ENSP00000512816.1:n.700-4A>G | |
| ENST00000696696.1:c.*761-4A>G | ENSP00000512817.1:n.*761-4A>G | |
| ENST00000696697.1:c.808-4A>G | ENSP00000512818.1:n.808-4A>G | |
| ENST00000367739.9:c.862-4A>G MANE Select | ENSP00000356713.5:n.862-4A>G | |
| ENST00000642390.1:c.805-4A>G | ENSP00000496468.1:n.805-4A>G | |
| ENST00000643119.1:c.982-4A>G | ENSP00000495934.1:n.982-4A>G | |
| ENST00000644894.1:c.739-4A>G | ENSP00000495272.1:n.739-4A>G | |
| ENST00000645045.1:c.971-4A>G | ||
| ENST00000645753.1:c.739-4A>G | ENSP00000495103.1:n.739-4A>G | |
| ENST00000646036.1:c.832-4A>G | ENSP00000496387.1:n.832-4A>G | |
| ENST00000646898.1:c.832-4A>G | ENSP00000494069.1:n.832-4A>G | |
| ENST00000647124.1:c.739-4A>G | ENSP00000496549.1:n.739-4A>G | |
| ENST00000367739.8:c.862-4A>G | ENSP00000356713.4:n.862-4A>G | |
| ENST00000543628.5:c.*33-4A>G | ENSP00000443282.2:n.*33-4A>G | |
| NM_000416.2:c.862-4A>G , LRG_66t1:c.862-4A>G | NP_000407.1:n.862-4A>G | |
| XM_006715470.2:c.832-4A>G | XP_006715533.1:n.832-4A>G | |
| XM_006715471.2:c.739-4A>G | XP_006715534.1:n.739-4A>G | |
| XM_011535793.1:c.832-4A>G | XP_011534095.1:n.832-4A>G | |
| XM_011535794.1:c.832-4A>G | XP_011534096.1:n.832-4A>G | |
| NM_001363526.1:c.832-4A>G | NP_001350455.1:n.832-4A>G | |
| NM_001363527.1:c.739-4A>G | NP_001350456.1:n.739-4A>G | |
| XM_006715470.3:c.832-4A>G | XP_006715533.1:n.832-4A>G | |
| XM_011535793.2:c.832-4A>G | XP_011534095.1:n.832-4A>G | |
| NM_000416.3:c.862-4A>G MANE Select | NP_000407.1:n.862-4A>G |