Linked Data
ClinVar Variation Id:
65285
ClinVar RCV Id:
RCV000055507
RCV000055604
RCV000190025
RCV000458400
RCV000571810
RCV001703964
RCV004542721
dbSNP Id:
rs397515209
ExAC:
16:2133801 C / T
gnomAD v2:
16-2133801-C-T
gnomAD v3:
16-2083800-C-T
gnomAD v4:
16-2083800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2083800C>T , CM000678.2:g.2083800C>T | GRCh38 |
| NC_000016.9:g.2133801C>T , CM000678.1:g.2133801C>T | GRCh37 |
| NC_000016.8:g.2073802C>T | NCBI36 |
| NG_005895.1:g.39495C>T , LRG_487:g.39495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2338C>T | ENSP00000455997.2:n.*2338C>T | |
| ENST00000642206.2:c.3836C>T | ENSP00000495146.2:p.Thr1279Met | |
| ENST00000642365.2:c.3986C>T | ENSP00000495459.2:p.Thr1329Met | |
| ENST00000644417.2:c.*4369C>T | ENSP00000493912.2:n.*4369C>T | |
| ENST00000646464.2:c.*6738C>T | ENSP00000496610.2:n.*6738C>T | |
| ENST00000219476.9:c.3989C>T MANE Select | ENSP00000219476.3:p.Thr1330Met | |
| ENST00000350773.9:c.3920C>T | ENSP00000344383.4:p.Thr1307Met | |
| ENST00000401874.7:c.3788C>T | ENSP00000384468.2:p.Thr1263Met | |
| ENST00000568454.6:c.3821C>T | ENSP00000454487.1:p.Thr1274Met | |
| ENST00000569110.2:c.225C>T | ||
| ENST00000569930.2:n.1871C>T | ||
| ENST00000642365.1:c.2643C>T | ||
| ENST00000642561.1:c.3860C>T | ENSP00000495099.1:p.Thr1287Met | |
| ENST00000642728.1:n.171C>T | ||
| ENST00000642797.1:c.3791C>T | ENSP00000493846.1:p.Thr1264Met | |
| ENST00000642936.1:c.3857C>T | ENSP00000494514.1:p.Thr1286Met | |
| ENST00000643088.1:c.3788C>T | ENSP00000494747.1:p.Thr1263Met | |
| ENST00000643177.1:n.3C>T | ||
| ENST00000643426.1:n.1637C>T | ||
| ENST00000643533.1:n.430C>T | ||
| ENST00000643946.1:c.3920C>T | ENSP00000495927.1:p.Thr1307Met | |
| ENST00000644043.1:c.3860C>T | ENSP00000496262.1:p.Thr1287Met | |
| ENST00000644329.1:c.3788C>T | ENSP00000496611.1:p.Thr1263Met | |
| ENST00000644335.1:c.3791C>T | ENSP00000496317.1:p.Thr1264Met | |
| ENST00000644399.1:c.3910C>T | ||
| ENST00000645024.1:n.2073C>T | ||
| ENST00000645186.1:c.232C>T | ||
| ENST00000646388.1:c.3989C>T | ENSP00000495921.1:p.Thr1330Met | |
| ENST00000646634.1:n.2804C>T | ||
| ENST00000646674.1:n.1241C>T | ||
| ENST00000647042.1:n.1212C>T | ||
| ENST00000647180.1:n.1102C>T | ||
| ENST00000219476.7:c.3989C>T | ENSP00000219476.3:p.Thr1330Met | |
| ENST00000350773.8:c.3920C>T | ENSP00000344383.4:p.Thr1307Met | |
| ENST00000382538.10:c.3644C>T | ENSP00000371978.6:p.Thr1215Met | |
| ENST00000401874.6:c.3788C>T | ENSP00000384468.2:p.Thr1263Met | |
| ENST00000439117.6:c.*3156C>T | ENSP00000406980.2:n.*3156C>T | |
| ENST00000439673.6:c.3680C>T | ENSP00000399232.2:p.Thr1227Met | |
| ENST00000497886.5:n.1747C>T | ||
| ENST00000568454.5:c.3821C>T | ENSP00000454487.1:p.Thr1274Met | |
| ENST00000569110.1:c.171C>T | ||
| ENST00000569930.1:n.1104C>T | ||
| NM_000548.3:c.3989C>T , LRG_487t1:c.3989C>T | NP_000539.2:p.Thr1330Met | |
| NM_001077183.1:c.3788C>T | NP_001070651.1:p.Thr1263Met | |
| NM_001114382.1:c.3920C>T | NP_001107854.1:p.Thr1307Met | |
| XM_005255529.3:c.3860C>T | XP_005255586.2:p.Thr1287Met | |
| XM_005255531.3:c.3791C>T | XP_005255588.2:p.Thr1264Met | |
| XM_011522636.1:c.4043C>T | XP_011520938.1:p.Thr1348Met | |
| XM_011522637.1:c.4040C>T | XP_011520939.1:p.Thr1347Met | |
| XM_011522638.1:c.3932C>T | XP_011520940.1:p.Thr1311Met | |
| XM_011522639.1:c.3914C>T | XP_011520941.1:p.Thr1305Met | |
| XM_011522640.1:c.3911C>T | XP_011520942.1:p.Thr1304Met | |
| XM_011522641.1:c.3680C>T | XP_011520943.1:p.Thr1227Met | |
| NM_000548.4:c.3989C>T | NP_000539.2:p.Thr1330Met | |
| NM_001077183.2:c.3788C>T | NP_001070651.1:p.Thr1263Met | |
| NM_001114382.2:c.3920C>T | NP_001107854.1:p.Thr1307Met | |
| NM_001318827.1:c.3680C>T | NP_001305756.1:p.Thr1227Met | |
| NM_001318829.1:c.3644C>T | NP_001305758.1:p.Thr1215Met | |
| NM_001318831.1:c.3257C>T | NP_001305760.1:p.Thr1086Met | |
| NM_001318832.1:c.3821C>T | NP_001305761.1:p.Thr1274Met | |
| NM_001363528.1:c.3791C>T | NP_001350457.1:p.Thr1264Met | |
| NM_021055.2:c.3860C>T | NP_066399.2:p.Thr1287Met | |
| XM_005255531.4:c.3791C>T | XP_005255588.2:p.Thr1264Met | |
| XM_011522636.2:c.4043C>T | XP_011520938.1:p.Thr1348Met | |
| XM_011522637.2:c.4040C>T | XP_011520939.1:p.Thr1347Met | |
| XM_011522638.2:c.4205C>T | XP_011520940.2:p.Thr1402Met | |
| XM_011522639.2:c.3914C>T | XP_011520941.1:p.Thr1305Met | |
| XM_011522640.2:c.3911C>T | XP_011520942.1:p.Thr1304Met | |
| XM_017023615.1:c.3986C>T | XP_016879104.1:p.Thr1329Met | |
| XM_017023616.1:c.3857C>T | XP_016879105.1:p.Thr1286Met | |
| XM_017023617.1:c.3953C>T | XP_016879106.1:p.Thr1318Met | |
| XM_017023618.1:c.2699C>T | XP_016879107.1:p.Thr900Met | |
| XM_024450413.1:c.3788C>T | XP_024306181.1:p.Thr1263Met | |
| NM_000548.5:c.3989C>T MANE Select | NP_000539.2:p.Thr1330Met | |
| NM_001370404.1:c.3857C>T | NP_001357333.1:p.Thr1286Met | |
| NM_001370405.1:c.3860C>T | NP_001357334.1:p.Thr1287Met | |
| NM_001077183.3:c.3788C>T | NP_001070651.1:p.Thr1263Met | |
| NM_001114382.3:c.3920C>T | NP_001107854.1:p.Thr1307Met | |
| NM_001318827.2:c.3680C>T | NP_001305756.1:p.Thr1227Met | |
| NM_001318829.2:c.3644C>T | NP_001305758.1:p.Thr1215Met | |
| NM_001318831.2:c.3257C>T | NP_001305760.1:p.Thr1086Met | |
| NM_001318832.2:c.3821C>T | NP_001305761.1:p.Thr1274Met | |
| NM_001363528.2:c.3791C>T | NP_001350457.1:p.Thr1264Met | |
| NM_021055.3:c.3860C>T | NP_066399.2:p.Thr1287Met |