Linked Data
ClinVar Variation Id:
49524
dbSNP Id:
rs45517337
COSMIC:
COSM5010418
PubMed:
PMID:17304050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084540C>T , CM000678.2:g.2084540C>T | GRCh38 |
| NC_000016.9:g.2134541C>T , CM000678.1:g.2134541C>T | GRCh37 |
| NC_000016.8:g.2074542C>T | NCBI36 |
| NG_005895.1:g.40235C>T , LRG_487:g.40235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2667C>T | ENSP00000455997.2:n.*2667C>T | |
| ENST00000642206.2:c.4165C>T | ENSP00000495146.2:p.Gln1389Ter | |
| ENST00000642365.2:c.4315C>T | ENSP00000495459.2:p.Gln1439Ter | |
| ENST00000644417.2:c.*4698C>T | ENSP00000493912.2:n.*4698C>T | |
| ENST00000646464.2:c.*7067C>T | ENSP00000496610.2:n.*7067C>T | |
| ENST00000219476.9:c.4318C>T MANE Select | ENSP00000219476.3:p.Gln1440Ter | |
| ENST00000350773.9:c.4249C>T | ENSP00000344383.4:p.Gln1417Ter | |
| ENST00000401874.7:c.4117C>T | ENSP00000384468.2:p.Gln1373Ter | |
| ENST00000568454.6:c.4150C>T | ENSP00000454487.1:p.Gln1384Ter | |
| ENST00000569110.2:c.554C>T | ||
| ENST00000569930.2:n.2200C>T | ||
| ENST00000642365.1:c.2972C>T | ||
| ENST00000642561.1:c.4189C>T | ENSP00000495099.1:p.Gln1397Ter | |
| ENST00000642728.1:n.500C>T | ||
| ENST00000642797.1:c.4120C>T | ENSP00000493846.1:p.Gln1374Ter | |
| ENST00000642936.1:c.4186C>T | ENSP00000494514.1:p.Gln1396Ter | |
| ENST00000643088.1:c.4117C>T | ENSP00000494747.1:p.Gln1373Ter | |
| ENST00000643177.1:n.332C>T | ||
| ENST00000643426.1:n.1966C>T | ||
| ENST00000643946.1:c.4249C>T | ENSP00000495927.1:p.Gln1417Ter | |
| ENST00000644043.1:c.4189C>T | ENSP00000496262.1:p.Gln1397Ter | |
| ENST00000644329.1:c.4117C>T | ENSP00000496611.1:p.Gln1373Ter | |
| ENST00000644335.1:c.4120C>T | ENSP00000496317.1:p.Gln1374Ter | |
| ENST00000644399.1:c.4239C>T | ||
| ENST00000645024.1:n.2402C>T | ||
| ENST00000646388.1:c.4318C>T | ENSP00000495921.1:p.Gln1440Ter | |
| ENST00000646634.1:n.3133C>T | ||
| ENST00000646674.1:n.1570C>T | ||
| ENST00000647042.1:n.1541C>T | ||
| ENST00000647180.1:n.1431C>T | ||
| ENST00000219476.7:c.4318C>T | ENSP00000219476.3:p.Gln1440Ter | |
| ENST00000350773.8:c.4249C>T | ENSP00000344383.4:p.Gln1417Ter | |
| ENST00000382538.10:c.3973C>T | ENSP00000371978.6:p.Gln1325Ter | |
| ENST00000401874.6:c.4117C>T | ENSP00000384468.2:p.Gln1373Ter | |
| ENST00000439117.6:c.*3485C>T | ENSP00000406980.2:n.*3485C>T | |
| ENST00000439673.6:c.4009C>T | ENSP00000399232.2:p.Gln1337Ter | |
| ENST00000497886.5:n.2076C>T | ||
| ENST00000568454.5:c.4150C>T | ENSP00000454487.1:p.Gln1384Ter | |
| ENST00000569110.1:c.500C>T | ||
| ENST00000569930.1:n.1433C>T | ||
| NM_000548.3:c.4318C>T , LRG_487t1:c.4318C>T | NP_000539.2:p.Gln1440Ter | |
| NM_001077183.1:c.4117C>T | NP_001070651.1:p.Gln1373Ter | |
| NM_001114382.1:c.4249C>T | NP_001107854.1:p.Gln1417Ter | |
| XM_005255529.3:c.4189C>T | XP_005255586.2:p.Gln1397Ter | |
| XM_005255531.3:c.4120C>T | XP_005255588.2:p.Gln1374Ter | |
| XM_011522636.1:c.4372C>T | XP_011520938.1:p.Gln1458Ter | |
| XM_011522637.1:c.4369C>T | XP_011520939.1:p.Gln1457Ter | |
| XM_011522638.1:c.4261C>T | XP_011520940.1:p.Gln1421Ter | |
| XM_011522639.1:c.4243C>T | XP_011520941.1:p.Gln1415Ter | |
| XM_011522640.1:c.4240C>T | XP_011520942.1:p.Gln1414Ter | |
| XM_011522641.1:c.4009C>T | XP_011520943.1:p.Gln1337Ter | |
| NM_000548.4:c.4318C>T | NP_000539.2:p.Gln1440Ter | |
| NM_001077183.2:c.4117C>T | NP_001070651.1:p.Gln1373Ter | |
| NM_001114382.2:c.4249C>T | NP_001107854.1:p.Gln1417Ter | |
| NM_001318827.1:c.4009C>T | NP_001305756.1:p.Gln1337Ter | |
| NM_001318829.1:c.3973C>T | NP_001305758.1:p.Gln1325Ter | |
| NM_001318831.1:c.3586C>T | NP_001305760.1:p.Gln1196Ter | |
| NM_001318832.1:c.4150C>T | NP_001305761.1:p.Gln1384Ter | |
| NM_001363528.1:c.4120C>T | NP_001350457.1:p.Gln1374Ter | |
| NM_021055.2:c.4189C>T | NP_066399.2:p.Gln1397Ter | |
| XM_005255531.4:c.4120C>T | XP_005255588.2:p.Gln1374Ter | |
| XM_011522636.2:c.4372C>T | XP_011520938.1:p.Gln1458Ter | |
| XM_011522637.2:c.4369C>T | XP_011520939.1:p.Gln1457Ter | |
| XM_011522638.2:c.4534C>T | XP_011520940.2:p.Gln1512Ter | |
| XM_011522639.2:c.4243C>T | XP_011520941.1:p.Gln1415Ter | |
| XM_011522640.2:c.4240C>T | XP_011520942.1:p.Gln1414Ter | |
| XM_017023615.1:c.4315C>T | XP_016879104.1:p.Gln1439Ter | |
| XM_017023616.1:c.4186C>T | XP_016879105.1:p.Gln1396Ter | |
| XM_017023617.1:c.4282C>T | XP_016879106.1:p.Gln1428Ter | |
| XM_017023618.1:c.3028C>T | XP_016879107.1:p.Gln1010Ter | |
| XM_024450413.1:c.4117C>T | XP_024306181.1:p.Gln1373Ter | |
| NM_000548.5:c.4318C>T MANE Select | NP_000539.2:p.Gln1440Ter | |
| NM_001370404.1:c.4186C>T | NP_001357333.1:p.Gln1396Ter | |
| NM_001370405.1:c.4189C>T | NP_001357334.1:p.Gln1397Ter | |
| NM_001077183.3:c.4117C>T | NP_001070651.1:p.Gln1373Ter | |
| NM_001114382.3:c.4249C>T | NP_001107854.1:p.Gln1417Ter | |
| NM_001318827.2:c.4009C>T | NP_001305756.1:p.Gln1337Ter | |
| NM_001318829.2:c.3973C>T | NP_001305758.1:p.Gln1325Ter | |
| NM_001318831.2:c.3586C>T | NP_001305760.1:p.Gln1196Ter | |
| NM_001318832.2:c.4150C>T | NP_001305761.1:p.Gln1384Ter | |
| NM_001363528.2:c.4120C>T | NP_001350457.1:p.Gln1374Ter | |
| NM_021055.3:c.4189C>T | NP_066399.2:p.Gln1397Ter |