Linked Data
ClinVar Variation Id:
207755
dbSNP Id:
rs796053498
gnomAD v2:
16-2135238-C-A
gnomAD v3:
16-2085237-C-A
gnomAD v4:
16-2085237-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085237C>A , CM000678.2:g.2085237C>A | GRCh38 |
| NC_000016.9:g.2135238C>A , CM000678.1:g.2135238C>A | GRCh37 |
| NC_000016.8:g.2075239C>A | NCBI36 |
| NG_005895.1:g.40932C>A , LRG_487:g.40932C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*2926C>A | ENSP00000455997.2:n.*2926C>A | |
| ENST00000642206.2:c.4424C>A | ENSP00000495146.2:p.Ser1475Tyr | |
| ENST00000642365.2:c.4574C>A | ENSP00000495459.2:p.Ser1525Tyr | |
| ENST00000644417.2:c.*4957C>A | ENSP00000493912.2:n.*4957C>A | |
| ENST00000646464.2:c.*7326C>A | ENSP00000496610.2:n.*7326C>A | |
| ENST00000219476.9:c.4577C>A MANE Select | ENSP00000219476.3:p.Ser1526Tyr | |
| ENST00000350773.9:c.4508C>A | ENSP00000344383.4:p.Ser1503Tyr | |
| ENST00000401874.7:c.4376C>A | ENSP00000384468.2:p.Ser1459Tyr | |
| ENST00000568454.6:c.4409C>A | ENSP00000454487.1:p.Ser1470Tyr | |
| ENST00000569110.2:c.800C>A | ||
| ENST00000569930.2:n.2459C>A | ||
| ENST00000642365.1:c.3231C>A | ||
| ENST00000642561.1:c.4448C>A | ENSP00000495099.1:p.Ser1483Tyr | |
| ENST00000642728.1:n.759C>A | ||
| ENST00000642791.1:n.174C>A | ||
| ENST00000642797.1:c.4379C>A | ENSP00000493846.1:p.Ser1460Tyr | |
| ENST00000642936.1:c.4445C>A | ENSP00000494514.1:p.Ser1482Tyr | |
| ENST00000643088.1:c.4370C>A | ENSP00000494747.1:p.Ser1457Tyr | |
| ENST00000643177.1:n.591C>A | ||
| ENST00000643426.1:n.2225C>A | ||
| ENST00000643946.1:c.4502C>A | ENSP00000495927.1:p.Ser1501Tyr | |
| ENST00000644043.1:c.4448C>A | ENSP00000496262.1:p.Ser1483Tyr | |
| ENST00000644278.1:n.59C>A | ||
| ENST00000644329.1:c.4376C>A | ENSP00000496611.1:p.Ser1459Tyr | |
| ENST00000644335.1:c.4373C>A | ENSP00000496317.1:p.Ser1458Tyr | |
| ENST00000644399.1:c.4498C>A | ||
| ENST00000645024.1:n.2661C>A | ||
| ENST00000646388.1:c.4571C>A | ENSP00000495921.1:p.Ser1524Tyr | |
| ENST00000646634.1:n.3392C>A | ||
| ENST00000646674.1:n.1829C>A | ||
| ENST00000647042.1:n.1800C>A | ||
| ENST00000647180.1:n.1690C>A | ||
| ENST00000219476.7:c.4577C>A | ENSP00000219476.3:p.Ser1526Tyr | |
| ENST00000350773.8:c.4508C>A | ENSP00000344383.4:p.Ser1503Tyr | |
| ENST00000382538.10:c.4232C>A | ENSP00000371978.6:p.Ser1411Tyr | |
| ENST00000401874.6:c.4376C>A | ENSP00000384468.2:p.Ser1459Tyr | |
| ENST00000439117.6:c.*3744C>A | ENSP00000406980.2:n.*3744C>A | |
| ENST00000439673.6:c.4268C>A | ENSP00000399232.2:p.Ser1423Tyr | |
| ENST00000497886.5:n.2335C>A | ||
| ENST00000568454.5:c.4409C>A | ENSP00000454487.1:p.Ser1470Tyr | |
| ENST00000569110.1:c.759C>A | ||
| ENST00000569930.1:n.1692C>A | ||
| NM_000548.3:c.4577C>A , LRG_487t1:c.4577C>A | NP_000539.2:p.Ser1526Tyr | |
| NM_001077183.1:c.4376C>A | NP_001070651.1:p.Ser1459Tyr | |
| NM_001114382.1:c.4508C>A | NP_001107854.1:p.Ser1503Tyr | |
| XM_005255529.3:c.4448C>A | XP_005255586.2:p.Ser1483Tyr | |
| XM_005255531.3:c.4379C>A | XP_005255588.2:p.Ser1460Tyr | |
| XM_011522636.1:c.4631C>A | XP_011520938.1:p.Ser1544Tyr | |
| XM_011522637.1:c.4628C>A | XP_011520939.1:p.Ser1543Tyr | |
| XM_011522638.1:c.4520C>A | XP_011520940.1:p.Ser1507Tyr | |
| XM_011522639.1:c.4502C>A | XP_011520941.1:p.Ser1501Tyr | |
| XM_011522640.1:c.4499C>A | XP_011520942.1:p.Ser1500Tyr | |
| XM_011522641.1:c.4268C>A | XP_011520943.1:p.Ser1423Tyr | |
| NM_000548.4:c.4577C>A | NP_000539.2:p.Ser1526Tyr | |
| NM_001077183.2:c.4376C>A | NP_001070651.1:p.Ser1459Tyr | |
| NM_001114382.2:c.4508C>A | NP_001107854.1:p.Ser1503Tyr | |
| NM_001318827.1:c.4268C>A | NP_001305756.1:p.Ser1423Tyr | |
| NM_001318829.1:c.4232C>A | NP_001305758.1:p.Ser1411Tyr | |
| NM_001318831.1:c.3845C>A | NP_001305760.1:p.Ser1282Tyr | |
| NM_001318832.1:c.4409C>A | NP_001305761.1:p.Ser1470Tyr | |
| NM_001363528.1:c.4379C>A | NP_001350457.1:p.Ser1460Tyr | |
| NM_021055.2:c.4448C>A | NP_066399.2:p.Ser1483Tyr | |
| XM_005255531.4:c.4379C>A | XP_005255588.2:p.Ser1460Tyr | |
| XM_011522636.2:c.4631C>A | XP_011520938.1:p.Ser1544Tyr | |
| XM_011522637.2:c.4628C>A | XP_011520939.1:p.Ser1543Tyr | |
| XM_011522638.2:c.4793C>A | XP_011520940.2:p.Ser1598Tyr | |
| XM_011522639.2:c.4502C>A | XP_011520941.1:p.Ser1501Tyr | |
| XM_011522640.2:c.4499C>A | XP_011520942.1:p.Ser1500Tyr | |
| XM_017023615.1:c.4574C>A | XP_016879104.1:p.Ser1525Tyr | |
| XM_017023616.1:c.4445C>A | XP_016879105.1:p.Ser1482Tyr | |
| XM_017023617.1:c.4541C>A | XP_016879106.1:p.Ser1514Tyr | |
| XM_017023618.1:c.3287C>A | XP_016879107.1:p.Ser1096Tyr | |
| XM_024450413.1:c.4376C>A | XP_024306181.1:p.Ser1459Tyr | |
| NM_000548.5:c.4577C>A MANE Select | NP_000539.2:p.Ser1526Tyr | |
| NM_001370404.1:c.4445C>A | NP_001357333.1:p.Ser1482Tyr | |
| NM_001370405.1:c.4448C>A | NP_001357334.1:p.Ser1483Tyr | |
| NM_001077183.3:c.4376C>A | NP_001070651.1:p.Ser1459Tyr | |
| NM_001114382.3:c.4508C>A | NP_001107854.1:p.Ser1503Tyr | |
| NM_001318827.2:c.4268C>A | NP_001305756.1:p.Ser1423Tyr | |
| NM_001318829.2:c.4232C>A | NP_001305758.1:p.Ser1411Tyr | |
| NM_001318831.2:c.3845C>A | NP_001305760.1:p.Ser1282Tyr | |
| NM_001318832.2:c.4409C>A | NP_001305761.1:p.Ser1470Tyr | |
| NM_001363528.2:c.4379C>A | NP_001350457.1:p.Ser1460Tyr | |
| NM_021055.3:c.4448C>A | NP_066399.2:p.Ser1483Tyr |