Linked Data
ClinVar Variation Id:
51006
dbSNP Id:
rs200488568
ExAC:
22:50893287 T / C
gnomAD v2:
22-50893287-T-C
gnomAD v3:
22-50454858-T-C
gnomAD v4:
22-50454858-T-C
PubMed:
PMID:23749797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454858T>C , CM000684.2:g.50454858T>C | GRCh38 |
| NC_000022.10:g.50893287T>C , CM000684.1:g.50893287T>C | GRCh37 |
| NC_000022.9:g.49240153T>C | NCBI36 |
| NG_041810.1:g.25214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4690A>G | ENSP00000252027.8:p.Thr1564Ala | |
| ENST00000418590.4:c.400A>G | ENSP00000401538.2:p.Thr134Ala | |
| ENST00000470434.2:n.1171A>G | ||
| ENST00000684986.1:c.4771A>G | ENSP00000509117.1:p.Thr1591Ala | |
| ENST00000685180.1:n.2488+5676A>G | ||
| ENST00000685390.1:n.2736A>G | ||
| ENST00000685411.1:n.518A>G | ||
| ENST00000685592.1:c.1002A>G | ||
| ENST00000685809.1:c.4681A>G | ENSP00000508863.1:p.Thr1561Ala | |
| ENST00000686029.1:c.846A>G | ||
| ENST00000686191.1:n.3968A>G | ||
| ENST00000686222.1:c.*4190A>G | ENSP00000508737.1:n.*4190A>G | |
| ENST00000686321.1:c.864A>G | ||
| ENST00000686427.1:c.*1703A>G | ENSP00000510379.1:n.*1703A>G | |
| ENST00000686758.1:n.2582A>G | ||
| ENST00000686801.1:c.4756A>G | ENSP00000509915.1:p.Thr1586Ala | |
| ENST00000686826.1:n.1087A>G | ||
| ENST00000687016.1:c.4669A>G | ENSP00000509074.1:p.Thr1557Ala | |
| ENST00000687704.1:c.*2493A>G | ENSP00000510454.1:n.*2493A>G | |
| ENST00000688066.1:c.4768A>G | ENSP00000510782.1:p.Thr1590Ala | |
| ENST00000688124.1:c.*3686A>G | ENSP00000510645.1:n.*3686A>G | |
| ENST00000688848.1:c.*4112A>G | ENSP00000509419.1:n.*4112A>G | |
| ENST00000688985.1:c.1769A>G | ENSP00000510477.1:n.1769A>G | |
| ENST00000689129.1:c.4693A>G | ENSP00000510414.1:p.Thr1565Ala | |
| ENST00000689177.1:n.6040A>G | ||
| ENST00000689849.1:c.864A>G | ||
| ENST00000689981.1:c.4768A>G | ENSP00000509035.1:p.Thr1590Ala | |
| ENST00000690369.1:n.4786A>G | ||
| ENST00000690590.1:n.1815A>G | ||
| ENST00000690990.1:c.4762A>G | ENSP00000510461.1:p.Thr1588Ala | |
| ENST00000691233.1:c.4687A>G | ENSP00000509215.1:p.Thr1563Ala | |
| ENST00000691306.1:c.849A>G | ||
| ENST00000691345.1:n.2302+1358A>G | ||
| ENST00000691792.1:c.4756A>G | ENSP00000509911.1:p.Thr1586Ala | |
| ENST00000691959.1:n.5487A>G | ||
| ENST00000692844.1:n.1852A>G | ||
| ENST00000692946.1:c.864A>G | ||
| ENST00000693052.1:c.4786A>G | ENSP00000509558.1:p.Thr1596Ala | |
| ENST00000693289.1:n.1927A>G | ||
| ENST00000693440.1:c.4765A>G | ENSP00000509462.1:p.Thr1589Ala | |
| ENST00000693499.1:n.5764A>G | ||
| ENST00000693591.1:n.3576A>G | ||
| ENST00000380817.8:c.4768A>G MANE Select | ENSP00000370196.2:p.Thr1590Ala | |
| ENST00000348911.10:c.4693A>G | ENSP00000252027.7:p.Thr1565Ala | |
| ENST00000380817.7:c.4768A>G | ENSP00000370196.2:p.Thr1590Ala | |
| ENST00000418590.3:c.368A>G | ||
| ENST00000470434.1:n.909A>G | ||
| NM_002972.3:c.4768A>G | NP_002963.2:p.Thr1590Ala | |
| XM_005261931.1:c.4771A>G | XP_005261988.1:p.Thr1591Ala | |
| XM_005261935.1:c.4690A>G | XP_005261992.1:p.Thr1564Ala | |
| XM_011530707.1:c.4870A>G | XP_011529009.1:p.Thr1624Ala | |
| XM_011530708.1:c.4822A>G | XP_011529010.1:p.Thr1608Ala | |
| XM_011530709.1:c.4798A>G | XP_011529011.1:p.Thr1600Ala | |
| XM_011530710.1:c.4795A>G | XP_011529012.1:p.Thr1599Ala | |
| XM_011530711.1:c.4795A>G | XP_011529013.1:p.Thr1599Ala | |
| XR_938344.1:n.4888A>G | ||
| NM_001365819.1:c.4693A>G | NP_001352748.1:p.Thr1565Ala | |
| XM_005261935.2:c.4690A>G | XP_005261992.1:p.Thr1564Ala | |
| XM_011530709.2:c.4798A>G | XP_011529011.1:p.Thr1600Ala | |
| XM_011530710.2:c.4795A>G | XP_011529012.1:p.Thr1599Ala | |
| XM_017028905.2:c.4720A>G | XP_016884394.1:p.Thr1574Ala | |
| NM_002972.4:c.4768A>G MANE Select | NP_002963.2:p.Thr1590Ala |