Linked Data
ClinVar Variation Id:
1464709
ClinVar RCV Id:
RCV001956958
dbSNP Id:
rs28938469
gnomAD v4:
11-17395659-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395659G>T , CM000673.2:g.17395659G>T | GRCh38 |
| NC_000011.9:g.17417206G>T , CM000673.1:g.17417206G>T | GRCh37 |
| NC_000011.8:g.17373782G>T | NCBI36 |
| NG_008867.1:g.86244C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3859C>A | ||
| ENST00000528374.2:c.849C>A | ||
| ENST00000529967.6:n.2597C>A | ||
| ENST00000532220.2:n.3491C>A | ||
| ENST00000642611.2:n.5591C>A | ||
| ENST00000644057.2:n.834C>A | ||
| ENST00000645004.2:n.1757C>A | ||
| ENST00000682051.1:n.4420C>A | ||
| ENST00000682110.1:n.4473C>A | ||
| ENST00000682140.1:c.*44C>A | ENSP00000507829.1:n.*44C>A | |
| ENST00000682185.1:n.5563C>A | ||
| ENST00000682204.1:c.*2396C>A | ENSP00000507094.1:n.*2396C>A | |
| ENST00000682215.1:n.4840C>A | ||
| ENST00000682288.1:c.*2689C>A | ENSP00000507506.1:n.*2689C>A | |
| ENST00000682442.1:n.4693C>A | ||
| ENST00000682528.1:n.4550C>A | ||
| ENST00000682673.1:n.4417C>A | ||
| ENST00000682805.1:n.4878C>A | ||
| ENST00000682965.1:c.*680C>A | ENSP00000508229.1:n.*680C>A | |
| ENST00000683093.1:n.5557C>A | ||
| ENST00000683136.1:c.4141C>A | ENSP00000507768.1:p.Arg1381Ser | |
| ENST00000683153.1:n.4515C>A | ||
| ENST00000683365.1:n.4575C>A | ||
| ENST00000683377.1:n.4473C>A | ||
| ENST00000683456.1:c.*1395C>A | ENSP00000508318.1:n.*1395C>A | |
| ENST00000683522.1:n.4473C>A | ||
| ENST00000683562.1:c.*2427C>A | ENSP00000508265.1:n.*2427C>A | |
| ENST00000683693.1:n.6038C>A | ||
| ENST00000683725.1:c.4258C>A | ENSP00000507496.1:p.Arg1420Ser | |
| ENST00000684010.1:n.4468C>A | ||
| ENST00000684157.1:n.5458C>A | ||
| ENST00000684253.1:n.4376C>A | ||
| ENST00000684288.1:c.*2430C>A | ENSP00000507143.1:n.*2430C>A | |
| ENST00000684313.1:n.3905C>A | ||
| ENST00000684332.1:n.4546C>A | ||
| ENST00000684371.1:n.4579C>A | ||
| ENST00000684404.1:n.5501C>A | ||
| ENST00000684442.1:n.4697C>A | ||
| ENST00000684555.1:c.*2470C>A | ENSP00000507705.1:n.*2470C>A | |
| ENST00000684571.1:c.4099C>A | ENSP00000506935.1:p.Arg1367Ser | |
| ENST00000684593.1:c.*3963C>A | ENSP00000507005.1:n.*3963C>A | |
| ENST00000684711.1:c.*2654C>A | ENSP00000506841.1:n.*2654C>A | |
| ENST00000302539.9:c.4261C>A | ENSP00000303960.4:p.Arg1421Ser | |
| ENST00000389817.8:c.4258C>A MANE Select | ENSP00000374467.4:p.Arg1420Ser | |
| ENST00000642271.1:c.4255C>A | ENSP00000493749.1:p.Arg1419Ser | |
| ENST00000642579.1:c.2312C>A | ||
| ENST00000642611.1:n.5476C>A | ||
| ENST00000642902.1:c.4040C>A | ||
| ENST00000643260.1:c.4258C>A | ENSP00000494450.1:p.Arg1420Ser | |
| ENST00000643562.1:c.*2380C>A | ENSP00000496124.1:n.*2380C>A | |
| ENST00000643925.1:c.2898C>A | ||
| ENST00000644057.1:n.335C>A | ||
| ENST00000644484.1:c.*3644C>A | ENSP00000493558.1:n.*3644C>A | |
| ENST00000644675.1:c.*2430C>A | ENSP00000494567.1:n.*2430C>A | |
| ENST00000644757.1:c.*3202+605C>A | ENSP00000495085.1:n.*3202+605C>A | |
| ENST00000644772.1:c.4324C>A | ENSP00000494321.1:p.Arg1442Ser | |
| ENST00000645004.1:n.1951C>A | ||
| ENST00000645076.1:c.3457C>A | ||
| ENST00000645417.1:c.1446C>A | ||
| ENST00000645744.1:c.*3964-21C>A | ENSP00000494564.1:n.*3964-21C>A | |
| ENST00000645760.1:c.4679C>A | ||
| ENST00000645884.1:c.*1541C>A | ENSP00000495516.1:n.*1541C>A | |
| ENST00000646003.1:c.*2301-21C>A | ENSP00000495259.1:n.*2301-21C>A | |
| ENST00000646207.1:c.*3095C>A | ENSP00000495025.1:n.*3095C>A | |
| ENST00000646276.1:c.*3662C>A | ENSP00000496070.1:n.*3662C>A | |
| ENST00000646592.1:c.3564C>A | ||
| ENST00000646902.1:c.4225C>A | ENSP00000494101.1:p.Arg1409Ser | |
| ENST00000646993.1:c.*2800C>A | ENSP00000493720.1:n.*2800C>A | |
| ENST00000647013.1:c.4264C>A | ENSP00000496741.1:n.4264C>A | |
| ENST00000647015.1:c.4009C>A | ENSP00000495389.1:p.Arg1337Ser | |
| ENST00000647086.1:c.*3844C>A | ENSP00000493677.1:n.*3844C>A | |
| ENST00000647158.1:c.*2545C>A | ENSP00000495744.1:n.*2545C>A | |
| ENST00000302539.8:c.4261C>A | ENSP00000303960.4:p.Arg1421Ser | |
| ENST00000389817.7:c.4258C>A | ENSP00000374467.3:p.Arg1420Ser | |
| ENST00000525022.1:n.257C>A | ||
| ENST00000526037.5:n.122C>A | ||
| ENST00000526168.5:c.67-21C>A | ||
| ENST00000531642.5:c.94C>A | ||
| NM_000352.4:c.4258C>A | NP_000343.2:p.Arg1420Ser | |
| NM_001287174.1:c.4261C>A | NP_001274103.1:p.Arg1421Ser | |
| XM_011520331.1:c.4258C>A | XP_011518633.1:p.Arg1420Ser | |
| XM_011520332.1:c.4261C>A | XP_011518634.1:p.Arg1421Ser | |
| XM_011520333.1:c.2758C>A | XP_011518635.1:p.Arg920Ser | |
| XR_930890.1:n.4324C>A | ||
| NM_001351295.1:c.4324C>A | NP_001338224.1:p.Arg1442Ser | |
| NM_001351296.1:c.4258C>A | NP_001338225.1:p.Arg1420Ser | |
| NM_001351297.1:c.4255C>A | NP_001338226.1:p.Arg1419Ser | |
| NR_147094.1:n.4553C>A | ||
| XM_017018197.2:c.4327C>A | XP_016873686.1:p.Arg1443Ser | |
| XM_017018199.1:c.4324C>A | XP_016873688.1:p.Arg1442Ser | |
| XM_017018201.2:c.4327C>A | XP_016873690.1:p.Arg1443Ser | |
| XM_017018202.1:c.2824C>A | XP_016873691.1:p.Arg942Ser | |
| XM_017018204.1:c.2215C>A | XP_016873693.1:p.Arg739Ser | |
| XM_024448668.1:c.2626C>A | XP_024304436.1:p.Arg876Ser | |
| XR_001747945.2:n.4399C>A | ||
| XR_001747946.2:n.4330C>A | ||
| XR_002957189.1:n.6113C>A | ||
| NM_000352.6:c.4258C>A MANE Select | NP_000343.2:p.Arg1420Ser | |
| NM_001287174.2:c.4261C>A | NP_001274103.1:p.Arg1421Ser | |
| NM_001351295.2:c.4324C>A | NP_001338224.1:p.Arg1442Ser | |
| NM_001351296.2:c.4258C>A | NP_001338225.1:p.Arg1420Ser | |
| NM_001351297.2:c.4255C>A | NP_001338226.1:p.Arg1419Ser | |
| NR_147094.2:n.4553C>A | ||
| NM_001287174.3:c.4261C>A | NP_001274103.1:p.Arg1421Ser |