Linked Data
ClinVar Variation Id:
1441092
ClinVar RCV Id:
RCV001937053
dbSNP Id:
rs141121335
ExAC:
3:134264449 C / T
gnomAD v2:
3-134264449-C-T
gnomAD v3:
3-134545607-C-T
gnomAD v4:
3-134545607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.134545607C>T , CM000665.2:g.134545607C>T | GRCh38 |
| NC_000003.11:g.134264449C>T , CM000665.1:g.134264449C>T | GRCh37 |
| NC_000003.10:g.135747139C>T | NCBI36 |
| NG_032870.1:g.64875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504929.6:c.22C>T | ENSP00000426866.2:p.Gln8Ter | |
| ENST00000508778.2:c.493C>T | ENSP00000422685.2:p.Gln165Ter | |
| ENST00000510625.2:n.2211+8339C>T | ||
| ENST00000511574.6:c.520C>T | ENSP00000424626.2:p.Gln174Ter | |
| ENST00000512894.6:c.577C>T | ENSP00000423225.2:p.Gln193Ter | |
| ENST00000513295.2:c.577C>T | ENSP00000507549.1:p.Gln193Ter | |
| ENST00000514678.2:c.577C>T | ENSP00000427526.2:p.Gln193Ter | |
| ENST00000620544.5:c.577C>T | ENSP00000482219.1:p.Gln193Ter | |
| ENST00000682007.1:c.577C>T | ENSP00000508145.1:p.Gln193Ter | |
| ENST00000682013.1:c.577C>T | ENSP00000507635.1:p.Gln193Ter | |
| ENST00000682042.1:c.577C>T | ENSP00000507228.1:p.Gln193Ter | |
| ENST00000682190.1:c.358C>T | ENSP00000507488.1:p.Gln120Ter | |
| ENST00000682316.1:c.*271C>T | ENSP00000507517.1:n.*271C>T | |
| ENST00000682402.1:c.577C>T | ENSP00000507548.1:p.Gln193Ter | |
| ENST00000682458.1:c.577C>T | ENSP00000507263.1:p.Gln193Ter | |
| ENST00000682593.1:c.493C>T | ENSP00000508324.1:p.Gln165Ter | |
| ENST00000682670.1:c.577C>T | ENSP00000507982.1:p.Gln193Ter | |
| ENST00000682685.1:c.493C>T | ENSP00000507957.1:p.Gln165Ter | |
| ENST00000682689.1:c.590C>T | ENSP00000506940.1:p.Thr197Ile | |
| ENST00000682717.1:c.454C>T | ENSP00000508030.1:p.Gln152Ter | |
| ENST00000682800.1:c.577C>T | ENSP00000506791.1:p.Gln193Ter | |
| ENST00000682822.1:c.493C>T | ENSP00000507596.1:p.Gln165Ter | |
| ENST00000682858.1:c.577C>T | ENSP00000507703.1:p.Gln193Ter | |
| ENST00000682937.1:c.577C>T | ENSP00000507900.1:p.Gln193Ter | |
| ENST00000682954.1:c.577C>T | ENSP00000507794.1:p.Gln193Ter | |
| ENST00000683019.1:n.993C>T | ||
| ENST00000683118.1:c.454C>T | ENSP00000507985.1:p.Gln152Ter | |
| ENST00000683138.1:n.4039C>T | ||
| ENST00000683177.1:c.577C>T | ENSP00000506828.1:p.Gln193Ter | |
| ENST00000683190.1:c.493C>T | ENSP00000508034.1:p.Gln165Ter | |
| ENST00000683245.1:c.*271C>T | ENSP00000507519.1:n.*271C>T | |
| ENST00000683556.1:c.358C>T | ENSP00000507583.1:p.Gln120Ter | |
| ENST00000683596.1:c.577C>T | ENSP00000506896.1:p.Gln193Ter | |
| ENST00000683608.1:c.577C>T | ENSP00000507704.1:p.Gln193Ter | |
| ENST00000683732.1:c.454C>T | ENSP00000507933.1:p.Gln152Ter | |
| ENST00000683861.1:c.577C>T | ENSP00000506728.1:p.Gln193Ter | |
| ENST00000683931.1:c.454C>T | ENSP00000506862.1:p.Gln152Ter | |
| ENST00000683940.1:c.577C>T | ENSP00000507472.1:p.Gln193Ter | |
| ENST00000683949.1:c.454C>T | ENSP00000506777.1:p.Gln152Ter | |
| ENST00000683997.1:c.577C>T | ENSP00000507552.1:p.Gln193Ter | |
| ENST00000684060.1:c.454C>T | ENSP00000507370.1:p.Gln152Ter | |
| ENST00000684170.1:c.493C>T | ENSP00000508161.1:p.Gln165Ter | |
| ENST00000684217.1:c.577C>T | ENSP00000508291.1:p.Gln193Ter | |
| ENST00000684256.1:c.370C>T | ENSP00000507380.1:p.Gln124Ter | |
| ENST00000684481.1:c.454C>T | ENSP00000507856.1:p.Gln152Ter | |
| ENST00000684492.1:c.493C>T | ENSP00000507256.1:p.Gln165Ter | |
| ENST00000684574.1:c.577C>T | ENSP00000507386.1:p.Gln193Ter | |
| ENST00000684588.1:c.358C>T | ENSP00000506765.1:p.Gln120Ter | |
| ENST00000684677.1:c.577C>T | ENSP00000507217.1:p.Gln193Ter | |
| ENST00000684777.1:c.577C>T | ENSP00000507733.1:p.Gln193Ter | |
| ENST00000332047.10:c.577C>T | ENSP00000328382.5:p.Gln193Ter | |
| ENST00000383229.8:c.577C>T | ENSP00000372716.3:p.Gln193Ter | |
| ENST00000513612.7:c.577C>T | ENSP00000426129.1:p.Gln193Ter | |
| ENST00000650279.2:c.*254C>T | ENSP00000497481.1:n.*254C>T | |
| ENST00000675561.1:c.577C>T MANE Select | ENSP00000502085.1:p.Gln193Ter | |
| ENST00000332047.9:c.577C>T | ENSP00000328382.5:p.Gln193Ter | |
| ENST00000337090.7:c.577C>T | ENSP00000336524.3:p.Gln193Ter | |
| ENST00000354446.7:c.577C>T | ENSP00000346432.3:p.Gln193Ter | |
| ENST00000383229.7:c.577C>T | ENSP00000372716.3:p.Gln193Ter | |
| ENST00000508778.1:c.294C>T | ||
| ENST00000510625.1:n.1926+8339C>T | ||
| ENST00000513612.6:c.577C>T | ENSP00000426129.1:p.Gln193Ter | |
| ENST00000606977.5:c.577C>T | ENSP00000475903.1:p.Gln193Ter | |
| ENST00000620544.4:c.577C>T | ENSP00000482219.1:p.Gln193Ter | |
| NM_001042383.1:c.577C>T | NP_001035842.1:p.Gln193Ter | |
| NM_001042384.1:c.577C>T | NP_001035843.1:p.Gln193Ter | |
| NM_001042400.1:c.577C>T | NP_001035859.1:p.Gln193Ter | |
| NM_025180.3:c.577C>T | NP_079456.2:p.Gln193Ter | |
| XM_005247795.3:c.604C>T | XP_005247852.1:p.Gln202Ter | |
| XM_005247797.2:c.577C>T | XP_005247854.1:p.Gln193Ter | |
| XM_005247799.2:c.214C>T | XP_005247856.1:p.Gln72Ter | |
| XM_006713760.2:c.577C>T | XP_006713823.1:p.Gln193Ter | |
| XM_011513193.1:c.697C>T | XP_011511495.1:p.Gln233Ter | |
| XM_011513194.1:c.577C>T | XP_011511496.1:p.Gln193Ter | |
| XM_011513195.1:c.697C>T | XP_011511497.1:p.Gln233Ter | |
| XM_011513196.1:c.697C>T | XP_011511498.1:p.Gln233Ter | |
| XM_011513197.1:c.349C>T | XP_011511499.1:p.Gln117Ter | |
| XM_011513198.1:c.697C>T | XP_011511500.1:p.Gln233Ter | |
| XM_011513199.1:c.697C>T | XP_011511501.1:p.Gln233Ter | |
| XM_011513200.1:c.697C>T | XP_011511502.1:p.Gln233Ter | |
| XM_011513201.1:c.697C>T | XP_011511503.1:p.Gln233Ter | |
| XM_011513202.1:c.697C>T | XP_011511504.1:p.Gln233Ter | |
| XM_011513203.1:c.697C>T | XP_011511505.1:p.Gln233Ter | |
| XM_011513204.1:c.697C>T | XP_011511506.1:p.Gln233Ter | |
| NM_001042383.2:c.577C>T | NP_001035842.1:p.Gln193Ter | |
| NM_001042384.2:c.577C>T | NP_001035843.1:p.Gln193Ter | |
| NM_001042400.2:c.577C>T | NP_001035859.1:p.Gln193Ter | |
| NM_001353108.1:c.577C>T | NP_001340037.1:p.Gln193Ter | |
| NM_001353109.1:c.577C>T | NP_001340038.1:p.Gln193Ter | |
| NM_001353110.1:c.577C>T | NP_001340039.1:p.Gln193Ter | |
| NM_001353111.1:c.577C>T | NP_001340040.1:p.Gln193Ter | |
| NM_001353112.1:c.577C>T | NP_001340041.1:p.Gln193Ter | |
| NM_001353113.1:c.577C>T | NP_001340042.1:p.Gln193Ter | |
| NM_001353117.1:c.577C>T | NP_001340046.1:p.Gln193Ter | |
| NM_001353118.1:c.604C>T | NP_001340047.1:p.Gln202Ter | |
| NM_001353119.1:c.577C>T | NP_001340048.1:p.Gln193Ter | |
| NM_001353120.1:c.577C>T | NP_001340049.1:p.Gln193Ter | |
| NM_001353121.1:c.577C>T | NP_001340050.1:p.Gln193Ter | |
| NM_001353122.1:c.577C>T | NP_001340051.1:p.Gln193Ter | |
| NM_001353123.1:c.577C>T | NP_001340052.1:p.Gln193Ter | |
| NM_001353124.1:c.577C>T | NP_001340053.1:p.Gln193Ter | |
| NM_001353125.1:c.493C>T | NP_001340054.1:p.Gln165Ter | |
| NM_001353126.1:c.214C>T | NP_001340055.1:p.Gln72Ter | |
| NM_025180.4:c.577C>T | NP_079456.2:p.Gln193Ter | |
| NR_148352.1:n.986C>T | ||
| NR_148353.1:n.986C>T | ||
| NR_148354.1:n.986C>T | ||
| NR_148355.1:n.931C>T | ||
| XM_005247795.5:c.604C>T | XP_005247852.1:p.Gln202Ter | |
| XM_005247797.3:c.577C>T | XP_005247854.1:p.Gln193Ter | |
| XM_005247799.3:c.214C>T | XP_005247856.1:p.Gln72Ter | |
| XM_006713760.4:c.577C>T | XP_006713823.1:p.Gln193Ter | |
| XM_017007247.2:c.577C>T | XP_016862736.1:p.Gln193Ter | |
| XM_017007248.2:c.577C>T | XP_016862737.1:p.Gln193Ter | |
| XM_017007249.1:c.577C>T | XP_016862738.1:p.Gln193Ter | |
| XM_017007252.1:c.214C>T | XP_016862741.1:p.Gln72Ter | |
| XM_024453768.1:c.610C>T | XP_024309536.1:p.Gln204Ter | |
| XM_024453769.1:c.493C>T | XP_024309537.1:p.Gln165Ter | |
| XM_024453770.1:c.493C>T | XP_024309538.1:p.Gln165Ter | |
| XM_024453771.1:c.493C>T | XP_024309539.1:p.Gln165Ter | |
| XM_024453772.1:c.493C>T | XP_024309540.1:p.Gln165Ter | |
| XM_024453773.1:c.493C>T | XP_024309541.1:p.Gln165Ter | |
| XM_024453774.1:c.493C>T | XP_024309542.1:p.Gln165Ter | |
| XM_024453775.1:c.493C>T | XP_024309543.1:p.Gln165Ter | |
| XM_024453776.1:c.610C>T | XP_024309544.1:p.Gln204Ter | |
| XM_024453777.1:c.493C>T | XP_024309545.1:p.Gln165Ter | |
| XM_024453778.1:c.493C>T | XP_024309546.1:p.Gln165Ter | |
| XM_024453779.1:c.493C>T | XP_024309547.1:p.Gln165Ter | |
| XR_001740278.1:n.631C>T | ||
| XR_002959586.1:n.598C>T | ||
| XR_002959587.1:n.598C>T | ||
| XR_002959588.1:n.598C>T | ||
| XR_002959589.1:n.631C>T | ||
| XR_002959590.1:n.598C>T | ||
| NM_001353108.2:c.577C>T | NP_001340037.1:p.Gln193Ter | |
| NM_001042400.3:c.577C>T | NP_001035859.1:p.Gln193Ter | |
| NM_001353108.3:c.577C>T MANE Select | NP_001340037.1:p.Gln193Ter | |
| NM_001353111.2:c.577C>T | NP_001340040.1:p.Gln193Ter | |
| NM_001353112.2:c.577C>T | NP_001340041.1:p.Gln193Ter | |
| NM_001353117.2:c.577C>T | NP_001340046.1:p.Gln193Ter | |
| NM_001353119.2:c.577C>T | NP_001340048.1:p.Gln193Ter | |
| NM_001353120.2:c.577C>T | NP_001340049.1:p.Gln193Ter | |
| NM_001353121.2:c.577C>T | NP_001340050.1:p.Gln193Ter | |
| NM_001353123.2:c.577C>T | NP_001340052.1:p.Gln193Ter | |
| NM_001353124.2:c.577C>T | NP_001340053.1:p.Gln193Ter | |
| NM_001353125.2:c.493C>T | NP_001340054.1:p.Gln165Ter | |
| NM_001353126.2:c.214C>T | NP_001340055.1:p.Gln72Ter | |
| NM_025180.5:c.577C>T | NP_079456.2:p.Gln193Ter | |
| NR_148352.2:n.1102C>T | ||
| NR_148353.2:n.1102C>T | ||
| NR_148354.2:n.1102C>T |