COSMIC:
COSM3999325 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40376602 (EAS)
Genomes Max Group AF
0.44099739 (EAS)
Exomes Max Group AF
0.39726954 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64233327T>C , CM000676.2:g.64233327T>C | GRCh38 |
| NC_000014.8:g.64700045T>C , CM000676.1:g.64700045T>C | GRCh37 |
| NC_000014.7:g.63769798T>C | NCBI36 |
| NG_011535.1:g.110224A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341099.6:c.1407-4A>G MANE Select | ENSP00000343925.4:n.1407-4A>G | |
| ENST00000267525.10:c.1134-4A>G | ENSP00000267525.6:n.1134-4A>G | |
| ENST00000341099.5:c.1407-4A>G | ENSP00000343925.4:n.1407-4A>G | |
| ENST00000344288.10:c.*295+1643A>G | ENSP00000345616.6:n.*295+1643A>G | |
| ENST00000353772.7:c.1406+1643A>G | ENSP00000335551.4:n.1406+1643A>G | |
| ENST00000358599.9:c.1406+1643A>G | ENSP00000351412.5:n.1406+1643A>G | |
| ENST00000553796.5:c.1406+1643A>G | ENSP00000452426.1:n.1406+1643A>G | |
| ENST00000554520.1:n.962-4A>G | ||
| ENST00000554572.5:c.1406+1643A>G | ENSP00000450699.1:n.1406+1643A>G | |
| ENST00000555278.5:c.1406+1643A>G | ENSP00000450488.1:n.1406+1643A>G | |
| ENST00000555483.5:n.1142-4A>G | ||
| ENST00000556275.5:c.1406+1643A>G | ENSP00000452485.2:n.1406+1643A>G | |
| ENST00000557772.5:c.3049A>G | ENSP00000451582.1:n.3049A>G | |
| NM_001040275.1:c.1406+1643A>G | NP_001035365.1:n.1406+1643A>G | |
| NM_001214902.1:c.1406+1643A>G | NP_001201831.1:n.1406+1643A>G | |
| NM_001271876.1:c.1406+1643A>G | NP_001258805.1:n.1406+1643A>G | |
| NM_001271877.1:c.1134-4A>G | NP_001258806.1:n.1134-4A>G | |
| NM_001291712.1:c.1406+1643A>G | NP_001278641.1:n.1406+1643A>G | |
| NM_001291723.1:c.1406+1643A>G | NP_001278652.1:n.1406+1643A>G | |
| NM_001437.2:c.1407-4A>G | NP_001428.1:n.1407-4A>G | |
| NR_073496.1:n.2010+1643A>G | ||
| NR_073497.1:n.1375-4A>G | ||
| XM_011536545.1:c.1406+1643A>G | XP_011534847.1:n.1406+1643A>G | |
| XM_011536546.1:c.1407-4A>G | XP_011534848.1:n.1407-4A>G | |
| XM_017021079.1:c.1407-4A>G | XP_016876568.1:n.1407-4A>G | |
| XM_017021080.1:c.1407-4A>G | XP_016876569.1:n.1407-4A>G | |
| XM_017021081.1:c.1407-4A>G | XP_016876570.1:n.1407-4A>G | |
| XM_017021082.1:c.1407-4A>G | XP_016876571.1:n.1407-4A>G | |
| XM_017021083.1:c.1407-4A>G | XP_016876572.1:n.1407-4A>G | |
| XM_017021084.1:c.1406+1643A>G | XP_016876573.1:n.1406+1643A>G | |
| XR_001750187.1:n.1842+1643A>G | ||
| NM_001291712.2:c.1406+1643A>G | NP_001278641.1:n.1406+1643A>G | |
| NR_073496.2:n.2073+1643A>G | ||
| NM_001437.3:c.1407-4A>G MANE Select | NP_001428.1:n.1407-4A>G |