COSMIC:
COSN19628021
COSN19711385
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47137186 (NFE)
Genomes Max Group AF
0.47137186 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111151670A>G , CM000664.2:g.111151670A>G | GRCh38 |
| NC_000002.11:g.111909247A>G , CM000664.1:g.111909247A>G | GRCh37 |
| NC_000002.10:g.111625718A>G | NCBI36 |
| NG_029006.1:g.35757A>G , LRG_620:g.35757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393252.4:c.780+1523A>G | ENSP00000376941.4:n.780+1523A>G | |
| ENST00000433098.6:c.561+1523A>G | ENSP00000401662.2:n.561+1523A>G | |
| ENST00000393256.8:c.498+1523A>G MANE Select | ENSP00000376943.2:n.498+1523A>G | |
| ENST00000308659.12:c.318+1523A>G | ENSP00000309226.8:n.318+1523A>G | |
| ENST00000361493.10:c.344+1523A>G | ENSP00000354879.6:n.344+1523A>G | |
| ENST00000393256.7:c.498+1523A>G | ENSP00000376943.2:n.498+1523A>G | |
| ENST00000415458.5:c.215-2110A>G | ENSP00000393781.1:n.215-2110A>G | |
| ENST00000431217.1:c.531+1523A>G | ENSP00000394640.1:n.531+1523A>G | |
| ENST00000433098.5:c.318+1523A>G | ENSP00000401662.1:n.318+1523A>G | |
| ENST00000436733.5:c.395-2110A>G | ENSP00000403727.1:n.395-2110A>G | |
| ENST00000437029.5:c.498+1523A>G | ENSP00000412892.1:n.498+1523A>G | |
| ENST00000439718.1:c.229-152A>G | ENSP00000411137.1:n.229-152A>G | |
| ENST00000452231.5:c.228+1523A>G | ENSP00000391292.1:n.228+1523A>G | |
| ENST00000610735.4:c.395-2110A>G | ENSP00000481030.1:n.395-2110A>G | |
| ENST00000615946.4:c.229-152A>G | ENSP00000481423.1:n.229-152A>G | |
| ENST00000619294.4:c.*123+1523A>G | ENSP00000479714.1:n.*123+1523A>G | |
| ENST00000620862.4:c.318+1523A>G | ENSP00000478133.1:n.318+1523A>G | |
| ENST00000621302.4:c.498+1523A>G | ENSP00000481652.1:n.498+1523A>G | |
| ENST00000622509.4:c.498+1523A>G | ENSP00000482175.1:n.498+1523A>G | |
| ENST00000622612.4:c.395-12463A>G | ENSP00000484360.1:n.395-12463A>G | |
| NM_001204106.1:c.228+1523A>G | NP_001191035.1:n.228+1523A>G | |
| NM_001204107.1:c.229-152A>G , LRG_620t1:c.229-152A>G | NP_001191036.1:n.229-152A>G | |
| NM_001204108.1:c.498+1523A>G , LRG_620t2:c.498+1523A>G | NP_001191037.1:n.498+1523A>G | |
| NM_001204109.1:c.395-2110A>G | NP_001191038.1:n.395-2110A>G | |
| NM_001204110.1:c.228+1523A>G | NP_001191039.1:n.228+1523A>G | |
| NM_001204111.1:c.215-12463A>G | NP_001191040.1:n.215-12463A>G | |
| NM_001204112.1:c.215-2110A>G | NP_001191041.1:n.215-2110A>G | |
| NM_006538.4:c.318+1523A>G | NP_006529.1:n.318+1523A>G | |
| NM_138621.4:c.498+1523A>G | NP_619527.1:n.498+1523A>G | |
| NM_138622.3:c.498+1523A>G | NP_619528.1:n.498+1523A>G | |
| NM_138623.3:c.318+1523A>G | NP_619529.1:n.318+1523A>G | |
| NM_138624.3:c.*123+1523A>G | NP_619530.1:n.*123+1523A>G | |
| NM_138625.3:c.*116+1523A>G , LRG_620t4:c.*116+1523A>G | NP_619531.1:n.*116+1523A>G | |
| NM_138626.3:c.395-12463A>G | NP_619532.1:n.395-12463A>G | |
| NM_138627.3:c.125-12463A>G | NP_619533.1:n.125-12463A>G | |
| NM_207003.2:c.228+1523A>G | NP_996886.1:n.228+1523A>G | |
| XM_005263551.1:c.780+1523A>G | XP_005263608.1:n.780+1523A>G | |
| XM_005263553.1:c.600+1523A>G | XP_005263610.1:n.600+1523A>G | |
| XM_005263554.1:c.677-12463A>G | XP_005263611.1:n.677-12463A>G | |
| XM_005263559.1:c.510+1523A>G | XP_005263616.1:n.510+1523A>G | |
| XR_244801.1:n.839+1523A>G | ||
| XR_244802.2:n.839+1523A>G | ||
| XR_922828.1:n.839+1523A>G | ||
| XR_922829.1:n.839+1523A>G | ||
| XR_922830.1:n.736-2110A>G | ||
| XM_005263551.3:c.780+1523A>G | XP_005263608.1:n.780+1523A>G | |
| XM_005263553.3:c.600+1523A>G | XP_005263610.1:n.600+1523A>G | |
| XM_005263554.3:c.677-12463A>G | XP_005263611.1:n.677-12463A>G | |
| XM_005263559.3:c.510+1523A>G | XP_005263616.1:n.510+1523A>G | |
| XM_017003101.2:c.497-12463A>G | XP_016858590.1:n.497-12463A>G | |
| XR_001738579.2:n.873+1523A>G | ||
| XR_001738580.2:n.660+1523A>G | ||
| XR_002958776.1:n.677+1523A>G | ||
| XR_244801.3:n.840+1523A>G | ||
| XR_922828.3:n.840+1523A>G | ||
| XR_922829.3:n.840+1523A>G | ||
| NM_138621.5:c.498+1523A>G MANE Select | NP_619527.1:n.498+1523A>G | |
| NM_001204106.2:c.228+1523A>G | NP_001191035.1:n.228+1523A>G | |
| NM_001204110.2:c.228+1523A>G | NP_001191039.1:n.228+1523A>G | |
| NM_001204111.2:c.215-12463A>G | NP_001191040.1:n.215-12463A>G | |
| NM_001204112.2:c.215-2110A>G | NP_001191041.1:n.215-2110A>G | |
| NM_006538.5:c.318+1523A>G | NP_006529.1:n.318+1523A>G | |
| NM_138625.4:c.*116+1523A>G | NP_619531.1:n.*116+1523A>G | |
| NM_138627.4:c.125-12463A>G | NP_619533.1:n.125-12463A>G | |
| NM_207003.3:c.228+1523A>G | NP_996886.1:n.228+1523A>G | |
| NM_001204109.2:c.395-2110A>G | NP_001191038.1:n.395-2110A>G | |
| NM_138622.4:c.498+1523A>G | NP_619528.1:n.498+1523A>G | |
| NM_138623.4:c.318+1523A>G | NP_619529.1:n.318+1523A>G | |
| NM_138624.4:c.*123+1523A>G | NP_619530.1:n.*123+1523A>G | |
| NM_138626.4:c.395-12463A>G | NP_619532.1:n.395-12463A>G |