Linked Data
ClinVar Variation Id:
535914
dbSNP Id:
rs999699219
gnomAD v2:
16-2134686-A-G
gnomAD v4:
16-2084685-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084685A>G , CM000678.2:g.2084685A>G | GRCh38 |
| NC_000016.9:g.2134686A>G , CM000678.1:g.2134686A>G | GRCh37 |
| NC_000016.8:g.2074687A>G | NCBI36 |
| NG_005895.1:g.40380A>G , LRG_487:g.40380A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2812A>G | ENSP00000455997.2:n.*2812A>G | |
| ENST00000642206.2:c.4310A>G | ENSP00000495146.2:p.Asn1437Ser | |
| ENST00000642365.2:c.4460A>G | ENSP00000495459.2:p.Asn1487Ser | |
| ENST00000644417.2:c.*4843A>G | ENSP00000493912.2:n.*4843A>G | |
| ENST00000646464.2:c.*7212A>G | ENSP00000496610.2:n.*7212A>G | |
| ENST00000219476.9:c.4463A>G MANE Select | ENSP00000219476.3:p.Asn1488Ser | |
| ENST00000350773.9:c.4394A>G | ENSP00000344383.4:p.Asn1465Ser | |
| ENST00000401874.7:c.4262A>G | ENSP00000384468.2:p.Asn1421Ser | |
| ENST00000568454.6:c.4295A>G | ENSP00000454487.1:p.Asn1432Ser | |
| ENST00000569110.2:c.699A>G | ||
| ENST00000569930.2:n.2345A>G | ||
| ENST00000642365.1:c.3117A>G | ||
| ENST00000642561.1:c.4334A>G | ENSP00000495099.1:p.Asn1445Ser | |
| ENST00000642728.1:n.645A>G | ||
| ENST00000642797.1:c.4265A>G | ENSP00000493846.1:p.Asn1422Ser | |
| ENST00000642936.1:c.4331A>G | ENSP00000494514.1:p.Asn1444Ser | |
| ENST00000643088.1:c.4262A>G | ENSP00000494747.1:p.Asn1421Ser | |
| ENST00000643177.1:n.477A>G | ||
| ENST00000643426.1:n.2111A>G | ||
| ENST00000643946.1:c.4394A>G | ENSP00000495927.1:p.Asn1465Ser | |
| ENST00000644043.1:c.4334A>G | ENSP00000496262.1:p.Asn1445Ser | |
| ENST00000644329.1:c.4262A>G | ENSP00000496611.1:p.Asn1421Ser | |
| ENST00000644335.1:c.4265A>G | ENSP00000496317.1:p.Asn1422Ser | |
| ENST00000644399.1:c.4384A>G | ||
| ENST00000645024.1:n.2547A>G | ||
| ENST00000646388.1:c.4463A>G | ENSP00000495921.1:p.Asn1488Ser | |
| ENST00000646634.1:n.3278A>G | ||
| ENST00000646674.1:n.1715A>G | ||
| ENST00000647042.1:n.1686A>G | ||
| ENST00000647180.1:n.1576A>G | ||
| ENST00000219476.7:c.4463A>G | ENSP00000219476.3:p.Asn1488Ser | |
| ENST00000350773.8:c.4394A>G | ENSP00000344383.4:p.Asn1465Ser | |
| ENST00000382538.10:c.4118A>G | ENSP00000371978.6:p.Asn1373Ser | |
| ENST00000401874.6:c.4262A>G | ENSP00000384468.2:p.Asn1421Ser | |
| ENST00000439117.6:c.*3630A>G | ENSP00000406980.2:n.*3630A>G | |
| ENST00000439673.6:c.4154A>G | ENSP00000399232.2:p.Asn1385Ser | |
| ENST00000497886.5:n.2221A>G | ||
| ENST00000568454.5:c.4295A>G | ENSP00000454487.1:p.Asn1432Ser | |
| ENST00000569110.1:c.645A>G | ||
| ENST00000569930.1:n.1578A>G | ||
| NM_000548.3:c.4463A>G , LRG_487t1:c.4463A>G | NP_000539.2:p.Asn1488Ser | |
| NM_001077183.1:c.4262A>G | NP_001070651.1:p.Asn1421Ser | |
| NM_001114382.1:c.4394A>G | NP_001107854.1:p.Asn1465Ser | |
| XM_005255529.3:c.4334A>G | XP_005255586.2:p.Asn1445Ser | |
| XM_005255531.3:c.4265A>G | XP_005255588.2:p.Asn1422Ser | |
| XM_011522636.1:c.4517A>G | XP_011520938.1:p.Asn1506Ser | |
| XM_011522637.1:c.4514A>G | XP_011520939.1:p.Asn1505Ser | |
| XM_011522638.1:c.4406A>G | XP_011520940.1:p.Asn1469Ser | |
| XM_011522639.1:c.4388A>G | XP_011520941.1:p.Asn1463Ser | |
| XM_011522640.1:c.4385A>G | XP_011520942.1:p.Asn1462Ser | |
| XM_011522641.1:c.4154A>G | XP_011520943.1:p.Asn1385Ser | |
| NM_000548.4:c.4463A>G | NP_000539.2:p.Asn1488Ser | |
| NM_001077183.2:c.4262A>G | NP_001070651.1:p.Asn1421Ser | |
| NM_001114382.2:c.4394A>G | NP_001107854.1:p.Asn1465Ser | |
| NM_001318827.1:c.4154A>G | NP_001305756.1:p.Asn1385Ser | |
| NM_001318829.1:c.4118A>G | NP_001305758.1:p.Asn1373Ser | |
| NM_001318831.1:c.3731A>G | NP_001305760.1:p.Asn1244Ser | |
| NM_001318832.1:c.4295A>G | NP_001305761.1:p.Asn1432Ser | |
| NM_001363528.1:c.4265A>G | NP_001350457.1:p.Asn1422Ser | |
| NM_021055.2:c.4334A>G | NP_066399.2:p.Asn1445Ser | |
| XM_005255531.4:c.4265A>G | XP_005255588.2:p.Asn1422Ser | |
| XM_011522636.2:c.4517A>G | XP_011520938.1:p.Asn1506Ser | |
| XM_011522637.2:c.4514A>G | XP_011520939.1:p.Asn1505Ser | |
| XM_011522638.2:c.4679A>G | XP_011520940.2:p.Asn1560Ser | |
| XM_011522639.2:c.4388A>G | XP_011520941.1:p.Asn1463Ser | |
| XM_011522640.2:c.4385A>G | XP_011520942.1:p.Asn1462Ser | |
| XM_017023615.1:c.4460A>G | XP_016879104.1:p.Asn1487Ser | |
| XM_017023616.1:c.4331A>G | XP_016879105.1:p.Asn1444Ser | |
| XM_017023617.1:c.4427A>G | XP_016879106.1:p.Asn1476Ser | |
| XM_017023618.1:c.3173A>G | XP_016879107.1:p.Asn1058Ser | |
| XM_024450413.1:c.4262A>G | XP_024306181.1:p.Asn1421Ser | |
| NM_000548.5:c.4463A>G MANE Select | NP_000539.2:p.Asn1488Ser | |
| NM_001370404.1:c.4331A>G | NP_001357333.1:p.Asn1444Ser | |
| NM_001370405.1:c.4334A>G | NP_001357334.1:p.Asn1445Ser | |
| NM_001077183.3:c.4262A>G | NP_001070651.1:p.Asn1421Ser | |
| NM_001114382.3:c.4394A>G | NP_001107854.1:p.Asn1465Ser | |
| NM_001318827.2:c.4154A>G | NP_001305756.1:p.Asn1385Ser | |
| NM_001318829.2:c.4118A>G | NP_001305758.1:p.Asn1373Ser | |
| NM_001318831.2:c.3731A>G | NP_001305760.1:p.Asn1244Ser | |
| NM_001318832.2:c.4295A>G | NP_001305761.1:p.Asn1432Ser | |
| NM_001363528.2:c.4265A>G | NP_001350457.1:p.Asn1422Ser | |
| NM_021055.3:c.4334A>G | NP_066399.2:p.Asn1445Ser |