COSMIC:
COSN8863863 (not active)
COSN26728437 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30948172 (MID)
Genomes Max Group AF
0.3014235 (EAS)
Exomes Max Group AF
0.30961263 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.23584632G>A , CM000674.2:g.23584632G>A | GRCh38 |
| NC_000012.11:g.23737566G>A , CM000674.1:g.23737566G>A | GRCh37 |
| NC_000012.10:g.23628833G>A | NCBI36 |
| NG_029612.1:g.982815C>T | |
| NG_029612.2:g.982815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704297.1:c.-85+611C>T | ENSP00000515821.1:n.-85+611C>T | |
| ENST00000704298.1:c.1125+19755C>T | ENSP00000515822.1:n.1125+19755C>T | |
| ENST00000704299.1:c.1021-8794C>T | ENSP00000515823.1:n.1021-8794C>T | |
| ENST00000451604.7:c.1165-8794C>T MANE Select | ENSP00000398273.2:n.1165-8794C>T | |
| ENST00000646273.1:c.1125+19755C>T | ENSP00000493866.1:n.1125+19755C>T | |
| ENST00000367206.7:c.1135-8794C>T | ENSP00000356174.3:n.1135-8794C>T | |
| ENST00000381381.6:c.1125+19755C>T | ENSP00000370788.2:n.1125+19755C>T | |
| ENST00000451604.6:c.1165-8794C>T | ENSP00000398273.2:n.1165-8794C>T | |
| ENST00000535530.5:n.488+19755C>T | ||
| ENST00000536629.5:n.545-8794C>T | ||
| ENST00000537393.5:c.1060-8794C>T | ENSP00000439832.1:n.1060-8794C>T | |
| ENST00000541536.5:c.1125+19755C>T | ENSP00000441973.1:n.1125+19755C>T | |
| ENST00000542241.5:n.197-8794C>T | ||
| ENST00000545921.5:c.1135-8794C>T | ENSP00000443520.1:n.1135-8794C>T | |
| ENST00000546136.5:c.1126-8794C>T | ENSP00000437487.1:n.1126-8794C>T | |
| NM_001261414.1:c.1125+19755C>T | NP_001248343.1:n.1125+19755C>T | |
| NM_001261415.1:c.1135-8794C>T | NP_001248344.1:n.1135-8794C>T | |
| NM_006940.4:c.1165-8794C>T | NP_008871.3:n.1165-8794C>T | |
| NM_152989.3:c.1126-8794C>T | NP_694534.1:n.1126-8794C>T | |
| XM_006719149.2:c.1126-8794C>T | XP_006719212.1:n.1126-8794C>T | |
| XM_011520831.1:c.1060-8794C>T | XP_011519133.1:n.1060-8794C>T | |
| XM_011520832.1:c.1168-8794C>T | XP_011519134.1:n.1168-8794C>T | |
| XM_011520833.1:c.1138-8794C>T | XP_011519135.1:n.1138-8794C>T | |
| XM_011520834.1:c.1129-8794C>T | XP_011519136.1:n.1129-8794C>T | |
| XM_011520835.1:c.1129-8794C>T | XP_011519137.1:n.1129-8794C>T | |
| XM_011520836.1:c.1129-8794C>T | XP_011519138.1:n.1129-8794C>T | |
| XM_011520837.1:c.1129-8794C>T | XP_011519139.1:n.1129-8794C>T | |
| XM_011520838.1:c.1063-8794C>T | XP_011519140.1:n.1063-8794C>T | |
| XM_011520839.1:c.1021-8794C>T | XP_011519141.1:n.1021-8794C>T | |
| XM_011520840.1:c.331-8794C>T | XP_011519142.1:n.331-8794C>T | |
| XM_011520841.1:c.331-8794C>T | XP_011519143.1:n.331-8794C>T | |
| XM_011520842.1:c.121-8794C>T | XP_011519144.1:n.121-8794C>T | |
| XM_011520843.1:c.331-8794C>T | XP_011519145.1:n.331-8794C>T | |
| XM_011520844.1:c.-85+611C>T | XP_011519146.1:n.-85+611C>T | |
| XM_011520845.1:c.-85+922C>T | XP_011519147.1:n.-85+922C>T | |
| NM_001261414.2:c.1125+19755C>T | NP_001248343.1:n.1125+19755C>T | |
| NM_001261415.2:c.1135-8794C>T | NP_001248344.1:n.1135-8794C>T | |
| NM_001330785.1:c.1060-8794C>T | NP_001317714.1:n.1060-8794C>T | |
| NM_006940.5:c.1165-8794C>T | NP_008871.3:n.1165-8794C>T | |
| NM_152989.4:c.1126-8794C>T | NP_694534.1:n.1126-8794C>T | |
| XM_011520832.2:c.1168-8794C>T | XP_011519134.1:n.1168-8794C>T | |
| XM_011520833.2:c.1138-8794C>T | XP_011519135.1:n.1138-8794C>T | |
| XM_011520834.2:c.1129-8794C>T | XP_011519136.1:n.1129-8794C>T | |
| XM_011520835.2:c.1129-8794C>T | XP_011519137.1:n.1129-8794C>T | |
| XM_011520837.2:c.1129-8794C>T | XP_011519139.1:n.1129-8794C>T | |
| XM_011520838.2:c.1063-8794C>T | XP_011519140.1:n.1063-8794C>T | |
| XM_011520842.2:c.121-8794C>T | XP_011519144.1:n.121-8794C>T | |
| XM_017019888.1:c.1255-8794C>T | XP_016875377.1:n.1255-8794C>T | |
| XM_017019889.1:c.1252-8794C>T | XP_016875378.1:n.1252-8794C>T | |
| XM_017019890.1:c.1129-8794C>T | XP_016875379.1:n.1129-8794C>T | |
| XM_017019891.1:c.1129-8794C>T | XP_016875380.1:n.1129-8794C>T | |
| XM_017019892.1:c.1129-8794C>T | XP_016875381.1:n.1129-8794C>T | |
| XM_017019893.1:c.1129-8794C>T | XP_016875382.1:n.1129-8794C>T | |
| XM_017019894.1:c.1129-8794C>T | XP_016875383.1:n.1129-8794C>T | |
| XM_017019895.1:c.1129-8794C>T | XP_016875384.1:n.1129-8794C>T | |
| XM_017019896.1:c.1126-8794C>T | XP_016875385.1:n.1126-8794C>T | |
| XM_017019897.1:c.1024-8794C>T | XP_016875386.1:n.1024-8794C>T | |
| XM_017019898.1:c.1021-8794C>T | XP_016875387.1:n.1021-8794C>T | |
| XM_017019899.1:c.1021-8794C>T | XP_016875388.1:n.1021-8794C>T | |
| XM_017019900.1:c.1021-8794C>T | XP_016875389.1:n.1021-8794C>T | |
| XM_017019901.1:c.1021-8794C>T | XP_016875390.1:n.1021-8794C>T | |
| XM_017019902.1:c.1167+19755C>T | XP_016875391.1:n.1167+19755C>T | |
| XM_017019903.1:c.1164+19755C>T | XP_016875392.1:n.1164+19755C>T | |
| XM_024449150.1:c.1129-8794C>T | XP_024304918.1:n.1129-8794C>T | |
| XM_024449151.1:c.1129-8794C>T | XP_024304919.1:n.1129-8794C>T | |
| XM_024449152.1:c.1129-8794C>T | XP_024304920.1:n.1129-8794C>T | |
| XM_024449153.1:c.1129-8794C>T | XP_024304921.1:n.1129-8794C>T | |
| XM_024449154.1:c.1129-8794C>T | XP_024304922.1:n.1129-8794C>T | |
| XM_024449155.1:c.1129-8794C>T | XP_024304923.1:n.1129-8794C>T | |
| XM_024449157.1:c.1129-8794C>T | XP_024304925.1:n.1129-8794C>T | |
| XM_024449158.1:c.1129-8794C>T | XP_024304926.1:n.1129-8794C>T | |
| XM_024449159.1:c.1129-8794C>T | XP_024304927.1:n.1129-8794C>T | |
| XM_024449160.1:c.1126-8794C>T | XP_024304928.1:n.1126-8794C>T | |
| XM_024449161.1:c.1126-8794C>T | XP_024304929.1:n.1126-8794C>T | |
| XM_024449163.1:c.1024-8794C>T | XP_024304931.1:n.1024-8794C>T | |
| XM_024449164.1:c.1024-8794C>T | XP_024304932.1:n.1024-8794C>T | |
| XM_024449165.1:c.1024-8794C>T | XP_024304933.1:n.1024-8794C>T | |
| NM_006940.6:c.1165-8794C>T MANE Select | NP_008871.3:n.1165-8794C>T | |
| NM_001261414.3:c.1125+19755C>T | NP_001248343.1:n.1125+19755C>T | |
| NM_001330785.2:c.1060-8794C>T | NP_001317714.1:n.1060-8794C>T | |
| NM_152989.5:c.1126-8794C>T | NP_694534.1:n.1126-8794C>T | |
| NM_001261415.3:c.1135-8794C>T | NP_001248344.1:n.1135-8794C>T |