Linked Data
ClinVar Variation Id:
413732
ClinVar RCV Id:
RCV001464354
dbSNP Id:
rs761621735
ExAC:
16:2138281 C / T
gnomAD v2:
16-2138281-C-T
gnomAD v4:
16-2088280-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088280C>T , CM000678.2:g.2088280C>T | GRCh38 |
| NC_000016.9:g.2138281C>T , CM000678.1:g.2138281C>T | GRCh37 |
| NC_000016.8:g.2078282C>T | NCBI36 |
| NG_005895.1:g.43975C>T , LRG_487:g.43975C>T | |
| NG_008617.1:g.54941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3563C>T | ENSP00000455997.2:n.*3563C>T | |
| ENST00000642206.2:c.5061C>T | ENSP00000495146.2:p.Ser1687= | |
| ENST00000642365.2:c.5211C>T | ENSP00000495459.2:p.Ser1737= | |
| ENST00000644417.2:c.*5727C>T | ENSP00000493912.2:n.*5727C>T | |
| ENST00000646464.2:c.*7963C>T | ENSP00000496610.2:n.*7963C>T | |
| ENST00000219476.9:c.5214C>T MANE Select | ENSP00000219476.3:p.Ser1738= | |
| ENST00000350773.9:c.5145C>T | ENSP00000344383.4:p.Ser1715= | |
| ENST00000401874.7:c.5013C>T | ENSP00000384468.2:p.Ser1671= | |
| ENST00000568454.6:c.5046C>T | ENSP00000454487.1:p.Ser1682= | |
| ENST00000569110.2:c.1437C>T | ||
| ENST00000569930.2:n.3096C>T | ||
| ENST00000642365.1:c.3868C>T | ||
| ENST00000642561.1:c.5073C>T | ENSP00000495099.1:p.Ser1691= | |
| ENST00000642791.1:n.811C>T | ||
| ENST00000642797.1:c.5016C>T | ENSP00000493846.1:p.Ser1672= | |
| ENST00000642936.1:c.5082C>T | ENSP00000494514.1:p.Ser1694= | |
| ENST00000643088.1:c.5007C>T | ENSP00000494747.1:p.Ser1669= | |
| ENST00000643426.1:n.2862C>T | ||
| ENST00000643946.1:c.5139C>T | ENSP00000495927.1:p.Ser1713= | |
| ENST00000644043.1:c.5085C>T | ENSP00000496262.1:p.Ser1695= | |
| ENST00000644329.1:c.5100C>T | ENSP00000496611.1:p.Ser1700= | |
| ENST00000644335.1:c.5010C>T | ENSP00000496317.1:p.Ser1670= | |
| ENST00000644399.1:c.5135C>T | ||
| ENST00000645024.1:n.3298C>T | ||
| ENST00000646388.1:c.5208C>T | ENSP00000495921.1:p.Ser1736= | |
| ENST00000646634.1:n.4029C>T | ||
| ENST00000646674.1:n.2466C>T | ||
| ENST00000647042.1:n.2437C>T | ||
| ENST00000647180.1:n.2327C>T | ||
| ENST00000219476.7:c.5214C>T | ENSP00000219476.3:p.Ser1738= | |
| ENST00000350773.8:c.5145C>T | ENSP00000344383.4:p.Ser1715= | |
| ENST00000382538.10:c.4869C>T | ENSP00000371978.6:p.Ser1623= | |
| ENST00000401874.6:c.5013C>T | ENSP00000384468.2:p.Ser1671= | |
| ENST00000439117.6:c.*4381C>T | ENSP00000406980.2:n.*4381C>T | |
| ENST00000439673.6:c.4905C>T | ENSP00000399232.2:p.Ser1635= | |
| ENST00000497886.5:n.2937C>T | ||
| ENST00000568454.5:c.5046C>T | ENSP00000454487.1:p.Ser1682= | |
| ENST00000569110.1:c.1396C>T | ||
| ENST00000569930.1:n.2329C>T | ||
| NM_000548.3:c.5214C>T , LRG_487t1:c.5214C>T | NP_000539.2:p.Ser1738= | |
| NM_001077183.1:c.5013C>T | NP_001070651.1:p.Ser1671= | |
| NM_001114382.1:c.5145C>T | NP_001107854.1:p.Ser1715= | |
| XM_005255529.3:c.5085C>T | XP_005255586.2:p.Ser1695= | |
| XM_005255531.3:c.5016C>T | XP_005255588.2:p.Ser1672= | |
| XM_011522636.1:c.5268C>T | XP_011520938.1:p.Ser1756= | |
| XM_011522637.1:c.5265C>T | XP_011520939.1:p.Ser1755= | |
| XM_011522638.1:c.5157C>T | XP_011520940.1:p.Ser1719= | |
| XM_011522639.1:c.5139C>T | XP_011520941.1:p.Ser1713= | |
| XM_011522640.1:c.5136C>T | XP_011520942.1:p.Ser1712= | |
| XM_011522641.1:c.4905C>T | XP_011520943.1:p.Ser1635= | |
| NM_000548.4:c.5214C>T | NP_000539.2:p.Ser1738= | |
| NM_001077183.2:c.5013C>T | NP_001070651.1:p.Ser1671= | |
| NM_001114382.2:c.5145C>T | NP_001107854.1:p.Ser1715= | |
| NM_001318827.1:c.4905C>T | NP_001305756.1:p.Ser1635= | |
| NM_001318829.1:c.4869C>T | NP_001305758.1:p.Ser1623= | |
| NM_001318831.1:c.4482C>T | NP_001305760.1:p.Ser1494= | |
| NM_001318832.1:c.5046C>T | NP_001305761.1:p.Ser1682= | |
| NM_001363528.1:c.5016C>T | NP_001350457.1:p.Ser1672= | |
| NM_021055.2:c.5085C>T | NP_066399.2:p.Ser1695= | |
| XM_005255531.4:c.5016C>T | XP_005255588.2:p.Ser1672= | |
| XM_011522636.2:c.5268C>T | XP_011520938.1:p.Ser1756= | |
| XM_011522637.2:c.5265C>T | XP_011520939.1:p.Ser1755= | |
| XM_011522638.2:c.5430C>T | XP_011520940.2:p.Ser1810= | |
| XM_011522639.2:c.5139C>T | XP_011520941.1:p.Ser1713= | |
| XM_011522640.2:c.5136C>T | XP_011520942.1:p.Ser1712= | |
| XM_017023615.1:c.5211C>T | XP_016879104.1:p.Ser1737= | |
| XM_017023616.1:c.5082C>T | XP_016879105.1:p.Ser1694= | |
| XM_017023617.1:c.5178C>T | XP_016879106.1:p.Ser1726= | |
| XM_017023618.1:c.3924C>T | XP_016879107.1:p.Ser1308= | |
| XM_024450413.1:c.5100C>T | XP_024306181.1:p.Ser1700= | |
| NM_000548.5:c.5214C>T MANE Select | NP_000539.2:p.Ser1738= | |
| NM_001370404.1:c.5082C>T | NP_001357333.1:p.Ser1694= | |
| NM_001370405.1:c.5073C>T | NP_001357334.1:p.Ser1691= | |
| NM_001077183.3:c.5013C>T | NP_001070651.1:p.Ser1671= | |
| NM_001114382.3:c.5145C>T | NP_001107854.1:p.Ser1715= | |
| NM_001318827.2:c.4905C>T | NP_001305756.1:p.Ser1635= | |
| NM_001318829.2:c.4869C>T | NP_001305758.1:p.Ser1623= | |
| NM_001318831.2:c.4482C>T | NP_001305760.1:p.Ser1494= | |
| NM_001318832.2:c.5046C>T | NP_001305761.1:p.Ser1682= | |
| NM_001363528.2:c.5016C>T | NP_001350457.1:p.Ser1672= | |
| NM_021055.3:c.5085C>T | NP_066399.2:p.Ser1695= |