COSMIC:
COSM1318945 (not active)
COSM1318946 (not active)
MutSpliceDB:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25236934A>C , CM000664.2:g.25236934A>C | GRCh38 |
| NC_000002.11:g.25459803A>C , CM000664.1:g.25459803A>C | GRCh37 |
| NC_000002.10:g.25313307A>C | NCBI36 |
| NG_029465.2:g.110657T>G , LRG_459:g.110657T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.728-1109T>G | ||
| ENST00000683393.1:c.1624+2T>G | ENSP00000508654.1:n.1624+2T>G | |
| ENST00000683760.1:c.1809+2T>G | ENSP00000507765.1:n.1809+2T>G | |
| ENST00000321117.10:c.2478+2T>G MANE Select | ENSP00000324375.5:n.2478+2T>G | |
| ENST00000264709.7:c.2478+2T>G | ENSP00000264709.3:n.2478+2T>G | |
| ENST00000321117.9:c.2478+2T>G | ENSP00000324375.5:n.2478+2T>G | |
| ENST00000380746.8:c.1911+2T>G | ENSP00000370122.4:n.1911+2T>G | |
| ENST00000380756.7:c.*331+2T>G | ENSP00000370132.3:n.*331+2T>G | |
| ENST00000402667.1:c.1809+2T>G | ENSP00000384237.1:n.1809+2T>G | |
| ENST00000474887.5:n.728-1109T>G | ||
| ENST00000482935.5:n.478+2T>G | ||
| ENST00000491288.5:n.468T>G | ||
| NM_022552.4:c.2478+2T>G , LRG_459t1:c.2478+2T>G | NP_072046.2:n.2478+2T>G | |
| NM_153759.3:c.1911+2T>G , LRG_459t2:c.1911+2T>G | NP_715640.2:n.1911+2T>G | |
| NM_175629.2:c.2478+2T>G , LRG_459t4:c.2478+2T>G | NP_783328.1:n.2478+2T>G | |
| XM_005264175.3:c.2478+2T>G | XP_005264232.1:n.2478+2T>G | |
| XM_005264177.3:c.1809+2T>G | XP_005264234.1:n.1809+2T>G | |
| XM_006711957.2:c.2409-1109T>G | XP_006712020.1:n.2409-1109T>G | |
| XM_006711958.2:c.2034+2T>G | XP_006712021.1:n.2034+2T>G | |
| XM_011532662.1:c.2331+2T>G | XP_011530964.1:n.2331+2T>G | |
| XM_011532663.1:c.2313+2T>G | XP_011530965.1:n.2313+2T>G | |
| XM_011532665.1:c.2022+2T>G | XP_011530967.1:n.2022+2T>G | |
| XM_011532666.1:c.1950+2T>G | XP_011530968.1:n.1950+2T>G | |
| XM_011532667.1:c.1809+2T>G | XP_011530969.1:n.1809+2T>G | |
| NM_001320893.1:c.2022+2T>G | NP_001307822.1:n.2022+2T>G | |
| NR_135490.1:n.3015+2T>G | ||
| XM_005264175.5:c.2478+2T>G | XP_005264232.1:n.2478+2T>G | |
| XM_005264177.4:c.1809+2T>G | XP_005264234.1:n.1809+2T>G | |
| XM_011532662.2:c.2331+2T>G | XP_011530964.1:n.2331+2T>G | |
| XM_011532663.2:c.2313+2T>G | XP_011530965.1:n.2313+2T>G | |
| XM_011532666.2:c.1950+2T>G | XP_011530968.1:n.1950+2T>G | |
| XM_011532667.3:c.1809+2T>G | XP_011530969.1:n.1809+2T>G | |
| XM_017003526.1:c.2478+2T>G | XP_016859015.1:n.2478+2T>G | |
| XM_017003527.1:c.1809+2T>G | XP_016859016.1:n.1809+2T>G | |
| XR_001738657.1:n.2686-1109T>G | ||
| NM_001375819.1:c.1809+2T>G | NP_001362748.1:n.1809+2T>G | |
| NR_135490.2:n.2908+2T>G | ||
| NM_022552.5:c.2478+2T>G MANE Select | NP_072046.2:n.2478+2T>G |