Linked Data
ClinVar Variation Id:
1369640
ClinVar RCV Id:
RCV001894944
dbSNP Id:
rs776103483
ExAC:
22:50893538 T / C
gnomAD v2:
22-50893538-T-C
gnomAD v3:
22-50455109-T-C
gnomAD v4:
22-50455109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50455109T>C , CM000684.2:g.50455109T>C | GRCh38 |
| NC_000022.10:g.50893538T>C , CM000684.1:g.50893538T>C | GRCh37 |
| NC_000022.9:g.49240404T>C | NCBI36 |
| NG_041810.1:g.24963A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4510A>G | ENSP00000252027.8:p.Ser1504Gly | |
| ENST00000418590.4:c.220A>G | ENSP00000401538.2:p.Ser74Gly | |
| ENST00000470434.2:n.991A>G | ||
| ENST00000684986.1:c.4591A>G | ENSP00000509117.1:p.Ser1531Gly | |
| ENST00000685180.1:n.2488+5425A>G | ||
| ENST00000685390.1:n.2556A>G | ||
| ENST00000685411.1:n.338A>G | ||
| ENST00000685592.1:c.822A>G | ||
| ENST00000685809.1:c.4501A>G | ENSP00000508863.1:p.Ser1501Gly | |
| ENST00000686029.1:c.666A>G | ||
| ENST00000686191.1:n.3788A>G | ||
| ENST00000686222.1:c.*4010A>G | ENSP00000508737.1:n.*4010A>G | |
| ENST00000686321.1:c.684A>G | ||
| ENST00000686427.1:c.*1523A>G | ENSP00000510379.1:n.*1523A>G | |
| ENST00000686758.1:n.2331A>G | ||
| ENST00000686801.1:c.4576A>G | ENSP00000509915.1:p.Ser1526Gly | |
| ENST00000686826.1:n.907A>G | ||
| ENST00000687016.1:c.4489A>G | ENSP00000509074.1:p.Ser1497Gly | |
| ENST00000687704.1:c.*2313A>G | ENSP00000510454.1:n.*2313A>G | |
| ENST00000688066.1:c.4588A>G | ENSP00000510782.1:p.Ser1530Gly | |
| ENST00000688124.1:c.*3506A>G | ENSP00000510645.1:n.*3506A>G | |
| ENST00000688848.1:c.*3932A>G | ENSP00000509419.1:n.*3932A>G | |
| ENST00000688985.1:c.1589A>G | ENSP00000510477.1:n.1589A>G | |
| ENST00000689129.1:c.4513A>G | ENSP00000510414.1:p.Ser1505Gly | |
| ENST00000689177.1:n.5860A>G | ||
| ENST00000689849.1:c.684A>G | ||
| ENST00000689981.1:c.4588A>G | ENSP00000509035.1:p.Ser1530Gly | |
| ENST00000690369.1:n.4606A>G | ||
| ENST00000690590.1:n.1635A>G | ||
| ENST00000690990.1:c.4582A>G | ENSP00000510461.1:p.Ser1528Gly | |
| ENST00000691233.1:c.4507A>G | ENSP00000509215.1:p.Ser1503Gly | |
| ENST00000691306.1:c.686A>G | ||
| ENST00000691345.1:n.2302+1107A>G | ||
| ENST00000691792.1:c.4576A>G | ENSP00000509911.1:p.Ser1526Gly | |
| ENST00000691959.1:n.5307A>G | ||
| ENST00000692844.1:n.1672A>G | ||
| ENST00000692946.1:c.684A>G | ||
| ENST00000693052.1:c.4606A>G | ENSP00000509558.1:p.Ser1536Gly | |
| ENST00000693289.1:n.1747A>G | ||
| ENST00000693440.1:c.4585A>G | ENSP00000509462.1:p.Ser1529Gly | |
| ENST00000693499.1:n.5513A>G | ||
| ENST00000693591.1:n.3325A>G | ||
| ENST00000380817.8:c.4588A>G MANE Select | ENSP00000370196.2:p.Ser1530Gly | |
| ENST00000348911.10:c.4513A>G | ENSP00000252027.7:p.Ser1505Gly | |
| ENST00000380817.7:c.4588A>G | ENSP00000370196.2:p.Ser1530Gly | |
| ENST00000418590.3:c.188A>G | ||
| ENST00000470434.1:n.729A>G | ||
| NM_002972.3:c.4588A>G | NP_002963.2:p.Ser1530Gly | |
| XM_005261931.1:c.4591A>G | XP_005261988.1:p.Ser1531Gly | |
| XM_005261935.1:c.4510A>G | XP_005261992.1:p.Ser1504Gly | |
| XM_011530707.1:c.4690A>G | XP_011529009.1:p.Ser1564Gly | |
| XM_011530708.1:c.4642A>G | XP_011529010.1:p.Ser1548Gly | |
| XM_011530709.1:c.4618A>G | XP_011529011.1:p.Ser1540Gly | |
| XM_011530710.1:c.4615A>G | XP_011529012.1:p.Ser1539Gly | |
| XM_011530711.1:c.4615A>G | XP_011529013.1:p.Ser1539Gly | |
| XR_938344.1:n.4708A>G | ||
| NM_001365819.1:c.4513A>G | NP_001352748.1:p.Ser1505Gly | |
| XM_005261935.2:c.4510A>G | XP_005261992.1:p.Ser1504Gly | |
| XM_011530709.2:c.4618A>G | XP_011529011.1:p.Ser1540Gly | |
| XM_011530710.2:c.4615A>G | XP_011529012.1:p.Ser1539Gly | |
| XM_017028905.2:c.4540A>G | XP_016884394.1:p.Ser1514Gly | |
| NM_002972.4:c.4588A>G MANE Select | NP_002963.2:p.Ser1530Gly |