Linked Data
ClinVar Variation Id:
217006
ClinVar RCV Id:
RCV000198892
dbSNP Id:
rs72547552
ExAC:
16:89616967 G / A
gnomAD v2:
16-89616967-G-A
gnomAD v4:
16-89550559-G-A
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89550559G>A , CM000678.2:g.89550559G>A | GRCh38 |
| NC_000016.9:g.89616967G>A , CM000678.1:g.89616967G>A | GRCh37 |
| NC_000016.8:g.88144468G>A | NCBI36 |
| NG_008082.1:g.47163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268704.7:c.1708G>A | ENSP00000268704.3:p.Gly570Ser | |
| ENST00000561702.6:n.2401G>A | ||
| ENST00000566682.2:c.742G>A | ENSP00000461979.2:p.Gly248Ser | |
| ENST00000569820.6:c.2002G>A | ||
| ENST00000642226.1:n.1792G>A | ||
| ENST00000642334.1:c.3147G>A | ||
| ENST00000642814.1:n.1144G>A | ||
| ENST00000642984.1:n.1325G>A | ||
| ENST00000643105.1:c.2435G>A | ||
| ENST00000643350.1:n.1143G>A | ||
| ENST00000643409.1:n.2154G>A | ||
| ENST00000643496.1:n.1546G>A | ||
| ENST00000643649.1:c.1618G>A | ENSP00000494806.1:p.Gly540Ser | |
| ENST00000643668.1:c.*2023G>A | ENSP00000494903.1:n.*2023G>A | |
| ENST00000643724.1:c.*777G>A | ENSP00000496335.1:n.*777G>A | |
| ENST00000643954.1:c.2628G>A | ||
| ENST00000644171.1:n.2489G>A | ||
| ENST00000644210.1:c.*301G>A | ENSP00000495675.1:n.*301G>A | |
| ENST00000644225.1:n.1746G>A | ||
| ENST00000644464.1:n.382G>A | ||
| ENST00000644498.1:c.*1548G>A | ENSP00000496244.1:n.*1548G>A | |
| ENST00000644671.1:c.1386G>A | ||
| ENST00000644751.1:c.917G>A | ||
| ENST00000644781.1:c.1729G>A | ENSP00000495473.1:p.Gly577Ser | |
| ENST00000644901.1:c.*2123G>A | ENSP00000493797.1:n.*2123G>A | |
| ENST00000645042.1:c.*503G>A | ENSP00000493908.1:n.*503G>A | |
| ENST00000645063.1:c.1729G>A | ENSP00000493590.1:p.Gly577Ser | |
| ENST00000645354.1:c.2489G>A | ||
| ENST00000645392.1:n.2070G>A | ||
| ENST00000645742.1:n.363G>A | ||
| ENST00000645818.2:c.1729G>A MANE Select | ENSP00000495795.2:p.Gly577Ser | |
| ENST00000645842.1:n.1574G>A | ||
| ENST00000645886.1:c.1234G>A | ||
| ENST00000645897.1:c.1267G>A | ENSP00000495293.1:p.Gly423Ser | |
| ENST00000645952.1:n.1594G>A | ||
| ENST00000645977.1:n.2847G>A | ||
| ENST00000646005.1:n.1487G>A | ||
| ENST00000646263.1:c.*602G>A | ENSP00000494119.1:n.*602G>A | |
| ENST00000646303.1:c.1597G>A | ENSP00000494160.1:p.Gly533Ser | |
| ENST00000646399.1:c.2623G>A | ||
| ENST00000646445.1:c.587G>A | ||
| ENST00000646531.1:c.*352G>A | ENSP00000495185.1:n.*352G>A | |
| ENST00000646589.1:c.*857G>A | ENSP00000494739.1:n.*857G>A | |
| ENST00000646716.1:c.781G>A | ENSP00000495593.1:p.Gly261Ser | |
| ENST00000646826.1:c.*402G>A | ENSP00000495123.1:n.*402G>A | |
| ENST00000646930.1:c.*1658G>A | ENSP00000495219.1:n.*1658G>A | |
| ENST00000647032.1:c.1344G>A | ||
| ENST00000647079.1:c.1321G>A | ENSP00000495967.1:p.Gly441Ser | |
| ENST00000647123.1:n.1686G>A | ||
| ENST00000647227.1:c.1367G>A | ||
| ENST00000647302.1:n.2379G>A | ||
| ENST00000647476.1:n.616G>A | ||
| ENST00000647491.1:n.1473G>A | ||
| ENST00000268704.6:c.1729G>A | ENSP00000268704.2:p.Gly577Ser | |
| ENST00000561702.5:n.714G>A | ||
| ENST00000561911.5:c.274G>A | ENSP00000457387.1:p.Gly92Ser | |
| ENST00000565370.1:n.514G>A | ||
| ENST00000566221.5:c.583G>A | ||
| ENST00000568205.1:n.24G>A | ||
| ENST00000569820.5:c.971G>A | ||
| ENST00000620811.4:c.504G>A | ENSP00000478030.1:p.Arg168= | |
| NM_003119.3:c.1729G>A | NP_003110.1:p.Gly577Ser | |
| XM_006721264.2:c.1729G>A | XP_006721327.1:p.Gly577Ser | |
| NM_001363850.1:c.1729G>A | NP_001350779.1:p.Gly577Ser | |
| XM_006721264.4:c.1729G>A | XP_006721327.1:p.Gly577Ser | |
| XR_001751971.2:n.2078G>A | ||
| XR_001751972.2:n.3365G>A | ||
| NM_003119.4:c.1729G>A MANE Select | NP_003110.1:p.Gly577Ser |