Linked Data
ClinVar Variation Id:
49812
dbSNP Id:
rs45517332
gnomAD v2:
16-2134442-G-C
gnomAD v4:
16-2084441-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084441G>C , CM000678.2:g.2084441G>C | GRCh38 |
| NC_000016.9:g.2134442G>C , CM000678.1:g.2134442G>C | GRCh37 |
| NC_000016.8:g.2074443G>C | NCBI36 |
| NG_005895.1:g.40136G>C , LRG_487:g.40136G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2568G>C | ENSP00000455997.2:n.*2568G>C | |
| ENST00000642206.2:c.4066G>C | ENSP00000495146.2:p.Val1356Leu | |
| ENST00000642365.2:c.4216G>C | ENSP00000495459.2:p.Val1406Leu | |
| ENST00000644417.2:c.*4599G>C | ENSP00000493912.2:n.*4599G>C | |
| ENST00000646464.2:c.*6968G>C | ENSP00000496610.2:n.*6968G>C | |
| ENST00000219476.9:c.4219G>C MANE Select | ENSP00000219476.3:p.Val1407Leu | |
| ENST00000350773.9:c.4150G>C | ENSP00000344383.4:p.Val1384Leu | |
| ENST00000401874.7:c.4018G>C | ENSP00000384468.2:p.Val1340Leu | |
| ENST00000568454.6:c.4051G>C | ENSP00000454487.1:p.Val1351Leu | |
| ENST00000569110.2:c.455G>C | ||
| ENST00000569930.2:n.2101G>C | ||
| ENST00000642365.1:c.2873G>C | ||
| ENST00000642561.1:c.4090G>C | ENSP00000495099.1:p.Val1364Leu | |
| ENST00000642728.1:n.401G>C | ||
| ENST00000642797.1:c.4021G>C | ENSP00000493846.1:p.Val1341Leu | |
| ENST00000642936.1:c.4087G>C | ENSP00000494514.1:p.Val1363Leu | |
| ENST00000643088.1:c.4018G>C | ENSP00000494747.1:p.Val1340Leu | |
| ENST00000643177.1:n.233G>C | ||
| ENST00000643426.1:n.1867G>C | ||
| ENST00000643946.1:c.4150G>C | ENSP00000495927.1:p.Val1384Leu | |
| ENST00000644043.1:c.4090G>C | ENSP00000496262.1:p.Val1364Leu | |
| ENST00000644329.1:c.4018G>C | ENSP00000496611.1:p.Val1340Leu | |
| ENST00000644335.1:c.4021G>C | ENSP00000496317.1:p.Val1341Leu | |
| ENST00000644399.1:c.4140G>C | ||
| ENST00000645024.1:n.2303G>C | ||
| ENST00000645186.1:c.462G>C | ||
| ENST00000646388.1:c.4219G>C | ENSP00000495921.1:p.Val1407Leu | |
| ENST00000646634.1:n.3034G>C | ||
| ENST00000646674.1:n.1471G>C | ||
| ENST00000647042.1:n.1442G>C | ||
| ENST00000647180.1:n.1332G>C | ||
| ENST00000219476.7:c.4219G>C | ENSP00000219476.3:p.Val1407Leu | |
| ENST00000350773.8:c.4150G>C | ENSP00000344383.4:p.Val1384Leu | |
| ENST00000382538.10:c.3874G>C | ENSP00000371978.6:p.Val1292Leu | |
| ENST00000401874.6:c.4018G>C | ENSP00000384468.2:p.Val1340Leu | |
| ENST00000439117.6:c.*3386G>C | ENSP00000406980.2:n.*3386G>C | |
| ENST00000439673.6:c.3910G>C | ENSP00000399232.2:p.Val1304Leu | |
| ENST00000497886.5:n.1977G>C | ||
| ENST00000568454.5:c.4051G>C | ENSP00000454487.1:p.Val1351Leu | |
| ENST00000569110.1:c.401G>C | ||
| ENST00000569930.1:n.1334G>C | ||
| NM_000548.3:c.4219G>C , LRG_487t1:c.4219G>C | NP_000539.2:p.Val1407Leu | |
| NM_001077183.1:c.4018G>C | NP_001070651.1:p.Val1340Leu | |
| NM_001114382.1:c.4150G>C | NP_001107854.1:p.Val1384Leu | |
| XM_005255529.3:c.4090G>C | XP_005255586.2:p.Val1364Leu | |
| XM_005255531.3:c.4021G>C | XP_005255588.2:p.Val1341Leu | |
| XM_011522636.1:c.4273G>C | XP_011520938.1:p.Val1425Leu | |
| XM_011522637.1:c.4270G>C | XP_011520939.1:p.Val1424Leu | |
| XM_011522638.1:c.4162G>C | XP_011520940.1:p.Val1388Leu | |
| XM_011522639.1:c.4144G>C | XP_011520941.1:p.Val1382Leu | |
| XM_011522640.1:c.4141G>C | XP_011520942.1:p.Val1381Leu | |
| XM_011522641.1:c.3910G>C | XP_011520943.1:p.Val1304Leu | |
| NM_000548.4:c.4219G>C | NP_000539.2:p.Val1407Leu | |
| NM_001077183.2:c.4018G>C | NP_001070651.1:p.Val1340Leu | |
| NM_001114382.2:c.4150G>C | NP_001107854.1:p.Val1384Leu | |
| NM_001318827.1:c.3910G>C | NP_001305756.1:p.Val1304Leu | |
| NM_001318829.1:c.3874G>C | NP_001305758.1:p.Val1292Leu | |
| NM_001318831.1:c.3487G>C | NP_001305760.1:p.Val1163Leu | |
| NM_001318832.1:c.4051G>C | NP_001305761.1:p.Val1351Leu | |
| NM_001363528.1:c.4021G>C | NP_001350457.1:p.Val1341Leu | |
| NM_021055.2:c.4090G>C | NP_066399.2:p.Val1364Leu | |
| XM_005255531.4:c.4021G>C | XP_005255588.2:p.Val1341Leu | |
| XM_011522636.2:c.4273G>C | XP_011520938.1:p.Val1425Leu | |
| XM_011522637.2:c.4270G>C | XP_011520939.1:p.Val1424Leu | |
| XM_011522638.2:c.4435G>C | XP_011520940.2:p.Val1479Leu | |
| XM_011522639.2:c.4144G>C | XP_011520941.1:p.Val1382Leu | |
| XM_011522640.2:c.4141G>C | XP_011520942.1:p.Val1381Leu | |
| XM_017023615.1:c.4216G>C | XP_016879104.1:p.Val1406Leu | |
| XM_017023616.1:c.4087G>C | XP_016879105.1:p.Val1363Leu | |
| XM_017023617.1:c.4183G>C | XP_016879106.1:p.Val1395Leu | |
| XM_017023618.1:c.2929G>C | XP_016879107.1:p.Val977Leu | |
| XM_024450413.1:c.4018G>C | XP_024306181.1:p.Val1340Leu | |
| NM_000548.5:c.4219G>C MANE Select | NP_000539.2:p.Val1407Leu | |
| NM_001370404.1:c.4087G>C | NP_001357333.1:p.Val1363Leu | |
| NM_001370405.1:c.4090G>C | NP_001357334.1:p.Val1364Leu | |
| NM_001077183.3:c.4018G>C | NP_001070651.1:p.Val1340Leu | |
| NM_001114382.3:c.4150G>C | NP_001107854.1:p.Val1384Leu | |
| NM_001318827.2:c.3910G>C | NP_001305756.1:p.Val1304Leu | |
| NM_001318829.2:c.3874G>C | NP_001305758.1:p.Val1292Leu | |
| NM_001318831.2:c.3487G>C | NP_001305760.1:p.Val1163Leu | |
| NM_001318832.2:c.4051G>C | NP_001305761.1:p.Val1351Leu | |
| NM_001363528.2:c.4021G>C | NP_001350457.1:p.Val1341Leu | |
| NM_021055.3:c.4090G>C | NP_066399.2:p.Val1364Leu |