Linked Data
ClinVar Variation Id:
49348
dbSNP Id:
rs45474691
ExAC:
16:2138090 T / A
gnomAD v2:
16-2138090-T-A
gnomAD v3:
16-2088089-T-A
gnomAD v4:
16-2088089-T-A
PubMed:
PMID:10533067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088089T>A , CM000678.2:g.2088089T>A | GRCh38 |
| NC_000016.9:g.2138090T>A , CM000678.1:g.2138090T>A | GRCh37 |
| NC_000016.8:g.2078091T>A | NCBI36 |
| NG_005895.1:g.43784T>A , LRG_487:g.43784T>A | |
| NG_008617.1:g.55132A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3459T>A | ENSP00000455997.2:n.*3459T>A | |
| ENST00000642206.2:c.4957T>A | ENSP00000495146.2:p.Ser1653Thr | |
| ENST00000642365.2:c.5107T>A | ENSP00000495459.2:p.Ser1703Thr | |
| ENST00000644417.2:c.*5623T>A | ENSP00000493912.2:n.*5623T>A | |
| ENST00000646464.2:c.*7859T>A | ENSP00000496610.2:n.*7859T>A | |
| ENST00000219476.9:c.5110T>A MANE Select | ENSP00000219476.3:p.Ser1704Thr | |
| ENST00000350773.9:c.5041T>A | ENSP00000344383.4:p.Ser1681Thr | |
| ENST00000401874.7:c.4909T>A | ENSP00000384468.2:p.Ser1637Thr | |
| ENST00000568454.6:c.4942T>A | ENSP00000454487.1:p.Ser1648Thr | |
| ENST00000569110.2:c.1333T>A | ||
| ENST00000569930.2:n.2992T>A | ||
| ENST00000642365.1:c.3764T>A | ||
| ENST00000642561.1:c.4981T>A | ENSP00000495099.1:p.Ser1661Thr | |
| ENST00000642791.1:n.707T>A | ||
| ENST00000642797.1:c.4912T>A | ENSP00000493846.1:p.Ser1638Thr | |
| ENST00000642936.1:c.4978T>A | ENSP00000494514.1:p.Ser1660Thr | |
| ENST00000643088.1:c.4903T>A | ENSP00000494747.1:p.Ser1635Thr | |
| ENST00000643426.1:n.2758T>A | ||
| ENST00000643946.1:c.5035T>A | ENSP00000495927.1:p.Ser1679Thr | |
| ENST00000644043.1:c.4981T>A | ENSP00000496262.1:p.Ser1661Thr | |
| ENST00000644329.1:c.4909T>A | ENSP00000496611.1:p.Ser1637Thr | |
| ENST00000644335.1:c.4906T>A | ENSP00000496317.1:p.Ser1636Thr | |
| ENST00000644399.1:c.5031T>A | ||
| ENST00000645024.1:n.3194T>A | ||
| ENST00000646388.1:c.5104T>A | ENSP00000495921.1:p.Ser1702Thr | |
| ENST00000646634.1:n.3925T>A | ||
| ENST00000646674.1:n.2362T>A | ||
| ENST00000647042.1:n.2333T>A | ||
| ENST00000647180.1:n.2223T>A | ||
| ENST00000219476.7:c.5110T>A | ENSP00000219476.3:p.Ser1704Thr | |
| ENST00000350773.8:c.5041T>A | ENSP00000344383.4:p.Ser1681Thr | |
| ENST00000382538.10:c.4765T>A | ENSP00000371978.6:p.Ser1589Thr | |
| ENST00000401874.6:c.4909T>A | ENSP00000384468.2:p.Ser1637Thr | |
| ENST00000439117.6:c.*4277T>A | ENSP00000406980.2:n.*4277T>A | |
| ENST00000439673.6:c.4801T>A | ENSP00000399232.2:p.Ser1601Thr | |
| ENST00000497886.5:n.2833T>A | ||
| ENST00000568454.5:c.4942T>A | ENSP00000454487.1:p.Ser1648Thr | |
| ENST00000569110.1:c.1292T>A | ||
| ENST00000569930.1:n.2225T>A | ||
| NM_000548.3:c.5110T>A , LRG_487t1:c.5110T>A | NP_000539.2:p.Ser1704Thr | |
| NM_001077183.1:c.4909T>A | NP_001070651.1:p.Ser1637Thr | |
| NM_001114382.1:c.5041T>A | NP_001107854.1:p.Ser1681Thr | |
| XM_005255529.3:c.4981T>A | XP_005255586.2:p.Ser1661Thr | |
| XM_005255531.3:c.4912T>A | XP_005255588.2:p.Ser1638Thr | |
| XM_011522636.1:c.5164T>A | XP_011520938.1:p.Ser1722Thr | |
| XM_011522637.1:c.5161T>A | XP_011520939.1:p.Ser1721Thr | |
| XM_011522638.1:c.5053T>A | XP_011520940.1:p.Ser1685Thr | |
| XM_011522639.1:c.5035T>A | XP_011520941.1:p.Ser1679Thr | |
| XM_011522640.1:c.5032T>A | XP_011520942.1:p.Ser1678Thr | |
| XM_011522641.1:c.4801T>A | XP_011520943.1:p.Ser1601Thr | |
| NM_000548.4:c.5110T>A | NP_000539.2:p.Ser1704Thr | |
| NM_001077183.2:c.4909T>A | NP_001070651.1:p.Ser1637Thr | |
| NM_001114382.2:c.5041T>A | NP_001107854.1:p.Ser1681Thr | |
| NM_001318827.1:c.4801T>A | NP_001305756.1:p.Ser1601Thr | |
| NM_001318829.1:c.4765T>A | NP_001305758.1:p.Ser1589Thr | |
| NM_001318831.1:c.4378T>A | NP_001305760.1:p.Ser1460Thr | |
| NM_001318832.1:c.4942T>A | NP_001305761.1:p.Ser1648Thr | |
| NM_001363528.1:c.4912T>A | NP_001350457.1:p.Ser1638Thr | |
| NM_021055.2:c.4981T>A | NP_066399.2:p.Ser1661Thr | |
| XM_005255531.4:c.4912T>A | XP_005255588.2:p.Ser1638Thr | |
| XM_011522636.2:c.5164T>A | XP_011520938.1:p.Ser1722Thr | |
| XM_011522637.2:c.5161T>A | XP_011520939.1:p.Ser1721Thr | |
| XM_011522638.2:c.5326T>A | XP_011520940.2:p.Ser1776Thr | |
| XM_011522639.2:c.5035T>A | XP_011520941.1:p.Ser1679Thr | |
| XM_011522640.2:c.5032T>A | XP_011520942.1:p.Ser1678Thr | |
| XM_017023615.1:c.5107T>A | XP_016879104.1:p.Ser1703Thr | |
| XM_017023616.1:c.4978T>A | XP_016879105.1:p.Ser1660Thr | |
| XM_017023617.1:c.5074T>A | XP_016879106.1:p.Ser1692Thr | |
| XM_017023618.1:c.3820T>A | XP_016879107.1:p.Ser1274Thr | |
| XM_024450413.1:c.4909T>A | XP_024306181.1:p.Ser1637Thr | |
| NM_000548.5:c.5110T>A MANE Select | NP_000539.2:p.Ser1704Thr | |
| NM_001370404.1:c.4978T>A | NP_001357333.1:p.Ser1660Thr | |
| NM_001370405.1:c.4981T>A | NP_001357334.1:p.Ser1661Thr | |
| NM_001077183.3:c.4909T>A | NP_001070651.1:p.Ser1637Thr | |
| NM_001114382.3:c.5041T>A | NP_001107854.1:p.Ser1681Thr | |
| NM_001318827.2:c.4801T>A | NP_001305756.1:p.Ser1601Thr | |
| NM_001318829.2:c.4765T>A | NP_001305758.1:p.Ser1589Thr | |
| NM_001318831.2:c.4378T>A | NP_001305760.1:p.Ser1460Thr | |
| NM_001318832.2:c.4942T>A | NP_001305761.1:p.Ser1648Thr | |
| NM_001363528.2:c.4912T>A | NP_001350457.1:p.Ser1638Thr | |
| NM_021055.3:c.4981T>A | NP_066399.2:p.Ser1661Thr |