Linked Data
ClinVar Variation Id:
468048
dbSNP Id:
rs1349341137
gnomAD v2:
16-2133711-T-C
gnomAD v4:
16-2083710-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2083710T>C , CM000678.2:g.2083710T>C | GRCh38 |
| NC_000016.9:g.2133711T>C , CM000678.1:g.2133711T>C | GRCh37 |
| NC_000016.8:g.2073712T>C | NCBI36 |
| NG_005895.1:g.39405T>C , LRG_487:g.39405T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2248T>C | ENSP00000455997.2:n.*2248T>C | |
| ENST00000642206.2:c.3746T>C | ENSP00000495146.2:p.Met1249Thr | |
| ENST00000642365.2:c.3896T>C | ENSP00000495459.2:p.Met1299Thr | |
| ENST00000644417.2:c.*4279T>C | ENSP00000493912.2:n.*4279T>C | |
| ENST00000646464.2:c.*6648T>C | ENSP00000496610.2:n.*6648T>C | |
| ENST00000219476.9:c.3899T>C MANE Select | ENSP00000219476.3:p.Met1300Thr | |
| ENST00000350773.9:c.3830T>C | ENSP00000344383.4:p.Met1277Thr | |
| ENST00000401874.7:c.3698T>C | ENSP00000384468.2:p.Met1233Thr | |
| ENST00000568454.6:c.3731T>C | ENSP00000454487.1:p.Met1244Thr | |
| ENST00000569110.2:c.135T>C | ||
| ENST00000569930.2:n.1781T>C | ||
| ENST00000642365.1:c.2553T>C | ||
| ENST00000642561.1:c.3770T>C | ENSP00000495099.1:p.Met1257Thr | |
| ENST00000642728.1:n.81T>C | ||
| ENST00000642797.1:c.3701T>C | ENSP00000493846.1:p.Met1234Thr | |
| ENST00000642936.1:c.3767T>C | ENSP00000494514.1:p.Met1256Thr | |
| ENST00000643088.1:c.3698T>C | ENSP00000494747.1:p.Met1233Thr | |
| ENST00000643426.1:n.1547T>C | ||
| ENST00000643533.1:n.340T>C | ||
| ENST00000643946.1:c.3830T>C | ENSP00000495927.1:p.Met1277Thr | |
| ENST00000644043.1:c.3770T>C | ENSP00000496262.1:p.Met1257Thr | |
| ENST00000644329.1:c.3698T>C | ENSP00000496611.1:p.Met1233Thr | |
| ENST00000644335.1:c.3701T>C | ENSP00000496317.1:p.Met1234Thr | |
| ENST00000644399.1:c.3820T>C | ||
| ENST00000645024.1:n.1983T>C | ||
| ENST00000645186.1:c.142T>C | ||
| ENST00000646388.1:c.3899T>C | ENSP00000495921.1:p.Met1300Thr | |
| ENST00000646634.1:n.2714T>C | ||
| ENST00000646674.1:n.1151T>C | ||
| ENST00000647042.1:n.1122T>C | ||
| ENST00000647180.1:n.1012T>C | ||
| ENST00000219476.7:c.3899T>C | ENSP00000219476.3:p.Met1300Thr | |
| ENST00000350773.8:c.3830T>C | ENSP00000344383.4:p.Met1277Thr | |
| ENST00000382538.10:c.3554T>C | ENSP00000371978.6:p.Met1185Thr | |
| ENST00000401874.6:c.3698T>C | ENSP00000384468.2:p.Met1233Thr | |
| ENST00000439117.6:c.*3066T>C | ENSP00000406980.2:n.*3066T>C | |
| ENST00000439673.6:c.3590T>C | ENSP00000399232.2:p.Met1197Thr | |
| ENST00000497886.5:n.1657T>C | ||
| ENST00000568454.5:c.3731T>C | ENSP00000454487.1:p.Met1244Thr | |
| ENST00000569110.1:c.81T>C | ||
| ENST00000569930.1:n.1014T>C | ||
| NM_000548.3:c.3899T>C , LRG_487t1:c.3899T>C | NP_000539.2:p.Met1300Thr | |
| NM_001077183.1:c.3698T>C | NP_001070651.1:p.Met1233Thr | |
| NM_001114382.1:c.3830T>C | NP_001107854.1:p.Met1277Thr | |
| XM_005255529.3:c.3770T>C | XP_005255586.2:p.Met1257Thr | |
| XM_005255531.3:c.3701T>C | XP_005255588.2:p.Met1234Thr | |
| XM_011522636.1:c.3953T>C | XP_011520938.1:p.Met1318Thr | |
| XM_011522637.1:c.3950T>C | XP_011520939.1:p.Met1317Thr | |
| XM_011522638.1:c.3842T>C | XP_011520940.1:p.Met1281Thr | |
| XM_011522639.1:c.3824T>C | XP_011520941.1:p.Met1275Thr | |
| XM_011522640.1:c.3821T>C | XP_011520942.1:p.Met1274Thr | |
| XM_011522641.1:c.3590T>C | XP_011520943.1:p.Met1197Thr | |
| NM_000548.4:c.3899T>C | NP_000539.2:p.Met1300Thr | |
| NM_001077183.2:c.3698T>C | NP_001070651.1:p.Met1233Thr | |
| NM_001114382.2:c.3830T>C | NP_001107854.1:p.Met1277Thr | |
| NM_001318827.1:c.3590T>C | NP_001305756.1:p.Met1197Thr | |
| NM_001318829.1:c.3554T>C | NP_001305758.1:p.Met1185Thr | |
| NM_001318831.1:c.3167T>C | NP_001305760.1:p.Met1056Thr | |
| NM_001318832.1:c.3731T>C | NP_001305761.1:p.Met1244Thr | |
| NM_001363528.1:c.3701T>C | NP_001350457.1:p.Met1234Thr | |
| NM_021055.2:c.3770T>C | NP_066399.2:p.Met1257Thr | |
| XM_005255531.4:c.3701T>C | XP_005255588.2:p.Met1234Thr | |
| XM_011522636.2:c.3953T>C | XP_011520938.1:p.Met1318Thr | |
| XM_011522637.2:c.3950T>C | XP_011520939.1:p.Met1317Thr | |
| XM_011522638.2:c.4115T>C | XP_011520940.2:p.Met1372Thr | |
| XM_011522639.2:c.3824T>C | XP_011520941.1:p.Met1275Thr | |
| XM_011522640.2:c.3821T>C | XP_011520942.1:p.Met1274Thr | |
| XM_017023615.1:c.3896T>C | XP_016879104.1:p.Met1299Thr | |
| XM_017023616.1:c.3767T>C | XP_016879105.1:p.Met1256Thr | |
| XM_017023617.1:c.3863T>C | XP_016879106.1:p.Met1288Thr | |
| XM_017023618.1:c.2609T>C | XP_016879107.1:p.Met870Thr | |
| XM_024450413.1:c.3698T>C | XP_024306181.1:p.Met1233Thr | |
| NM_000548.5:c.3899T>C MANE Select | NP_000539.2:p.Met1300Thr | |
| NM_001370404.1:c.3767T>C | NP_001357333.1:p.Met1256Thr | |
| NM_001370405.1:c.3770T>C | NP_001357334.1:p.Met1257Thr | |
| NM_001077183.3:c.3698T>C | NP_001070651.1:p.Met1233Thr | |
| NM_001114382.3:c.3830T>C | NP_001107854.1:p.Met1277Thr | |
| NM_001318827.2:c.3590T>C | NP_001305756.1:p.Met1197Thr | |
| NM_001318829.2:c.3554T>C | NP_001305758.1:p.Met1185Thr | |
| NM_001318831.2:c.3167T>C | NP_001305760.1:p.Met1056Thr | |
| NM_001318832.2:c.3731T>C | NP_001305761.1:p.Met1244Thr | |
| NM_001363528.2:c.3701T>C | NP_001350457.1:p.Met1234Thr | |
| NM_021055.3:c.3770T>C | NP_066399.2:p.Met1257Thr |