Linked Data
ClinVar Variation Id:
137174
ClinVar RCV Id:
RCV000124835
dbSNP Id:
rs540625328
gnomAD v2:
18-32290370-G-C
gnomAD v3:
18-34710406-G-C
gnomAD v4:
18-34710406-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.34710406G>C , CM000680.2:g.34710406G>C | GRCh38 |
| NC_000018.9:g.32290370G>C , CM000680.1:g.32290370G>C | GRCh37 |
| NC_000018.8:g.30544368G>C | NCBI36 |
| NG_009201.1:g.222117G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283365.14:c.-1-45570G>C | ENSP00000283365.10:n.-1-45570G>C | |
| ENST00000444659.6:c.-41G>C MANE Select | ENSP00000405819.2:n.-41G>C | |
| ENST00000680767.2:c.-258G>C | ENSP00000505379.2:n.-258G>C | |
| ENST00000682406.1:c.-2+30814G>C | ENSP00000506790.1:n.-2+30814G>C | |
| ENST00000682483.1:c.-2+20836G>C | ENSP00000508159.1:n.-2+20836G>C | |
| ENST00000682581.1:c.-500+2180G>C | ENSP00000507924.1:n.-500+2180G>C | |
| ENST00000682923.1:c.-371+30814G>C | ENSP00000508131.1:n.-371+30814G>C | |
| ENST00000683092.1:c.-2+30814G>C | ENSP00000508057.1:n.-2+30814G>C | |
| ENST00000683370.1:c.-2+30814G>C | ENSP00000507104.1:n.-2+30814G>C | |
| ENST00000683379.1:c.-2+30814G>C | ENSP00000507995.1:n.-2+30814G>C | |
| ENST00000683705.1:c.-2+30814G>C | ENSP00000507911.1:n.-2+30814G>C | |
| ENST00000684266.1:c.-2+30814G>C | ENSP00000507106.1:n.-2+30814G>C | |
| ENST00000684359.1:c.-2+30814G>C | ENSP00000507300.1:n.-2+30814G>C | |
| ENST00000684377.1:c.-472+30814G>C | ENSP00000506757.1:n.-472+30814G>C | |
| ENST00000684560.1:c.-2+26137G>C | ENSP00000507082.1:n.-2+26137G>C | |
| ENST00000684610.1:c.-2+30814G>C | ENSP00000508348.1:n.-2+30814G>C | |
| ENST00000684734.1:c.-2+30814G>C | ENSP00000506928.1:n.-2+30814G>C | |
| ENST00000588949.6:c.-41G>C | ENSP00000468631.2:n.-41G>C | |
| ENST00000591816.6:c.-2+2180G>C | ENSP00000466573.2:n.-2+2180G>C | |
| ENST00000598774.6:c.-2+30814G>C | ENSP00000472031.1:n.-2+30814G>C | |
| ENST00000679372.1:c.-2+30814G>C | ENSP00000506098.1:n.-2+30814G>C | |
| ENST00000679796.1:c.-41G>C | ENSP00000506659.1:n.-41G>C | |
| ENST00000679936.1:c.-2+26712G>C | ENSP00000506586.1:n.-2+26712G>C | |
| ENST00000680346.1:c.-125G>C | ENSP00000505947.1:n.-125G>C | |
| ENST00000680366.1:c.-2+2180G>C | ENSP00000506271.1:n.-2+2180G>C | |
| ENST00000680767.1:c.-12G>C | ENSP00000505379.1:n.-12G>C | |
| ENST00000680822.1:c.-41G>C | ENSP00000505718.1:n.-41G>C | |
| ENST00000681241.1:c.-2+903G>C | ENSP00000506495.1:n.-2+903G>C | |
| ENST00000681274.1:c.-410G>C | ENSP00000505183.1:n.-410G>C | |
| ENST00000681470.1:c.-2+30814G>C | ENSP00000505722.1:n.-2+30814G>C | |
| ENST00000283365.13:c.-2+30814G>C | ENSP00000283365.9:n.-2+30814G>C | |
| ENST00000315456.10:c.-2+30814G>C | ENSP00000322519.5:n.-2+30814G>C | |
| ENST00000348997.9:c.-41G>C | ENSP00000336682.4:n.-41G>C | |
| ENST00000399121.9:c.-2+30814G>C | ENSP00000382072.5:n.-2+30814G>C | |
| ENST00000554864.7:c.-2+30814G>C | ENSP00000451516.2:n.-2+30814G>C | |
| ENST00000585446.1:n.162+889G>C | ||
| ENST00000588125.5:c.-2+30814G>C | ENSP00000466978.1:n.-2+30814G>C | |
| ENST00000588684.5:c.-2+26712G>C | ENSP00000464904.1:n.-2+26712G>C | |
| ENST00000588949.5:c.-166G>C | ENSP00000468631.1:n.-166G>C | |
| ENST00000590412.5:c.-2+30814G>C | ENSP00000465063.1:n.-2+30814G>C | |
| ENST00000590598.5:c.-2+30814G>C | ENSP00000468473.1:n.-2+30814G>C | |
| ENST00000591816.5:c.-35+2180G>C | ENSP00000466573.1:n.-35+2180G>C | |
| ENST00000595022.5:c.-2+30814G>C | ENSP00000473078.1:n.-2+30814G>C | |
| ENST00000596745.5:c.-2+30814G>C | ENSP00000469121.1:n.-2+30814G>C | |
| ENST00000597599.5:c.-41G>C | ENSP00000473119.1:n.-41G>C | |
| ENST00000598142.5:c.-2+30814G>C | ENSP00000470716.1:n.-2+30814G>C | |
| ENST00000598334.5:c.-2+30814G>C | ENSP00000470152.1:n.-2+30814G>C | |
| ENST00000598774.5:c.-2+30814G>C | ENSP00000472031.1:n.-2+30814G>C | |
| NM_001128175.1:c.-2+30814G>C | NP_001121647.1:n.-2+30814G>C | |
| NM_001198938.1:c.-2+30814G>C | NP_001185867.1:n.-2+30814G>C | |
| NM_001198939.1:c.-2+30814G>C | NP_001185868.1:n.-2+30814G>C | |
| NM_001198940.1:c.-2+30814G>C | NP_001185869.1:n.-2+30814G>C | |
| NM_001198941.1:c.-41G>C | NP_001185870.1:n.-41G>C | |
| NM_001198945.1:c.-2+30814G>C | NP_001185874.1:n.-2+30814G>C | |
| NM_001392.4:c.-2+30814G>C | NP_001383.2:n.-2+30814G>C | |
| NM_032975.3:c.-2+30814G>C | NP_116757.2:n.-2+30814G>C | |
| NM_032978.6:c.-41G>C | NP_116760.2:n.-41G>C | |
| NM_032979.4:c.-2+30814G>C | NP_116761.2:n.-2+30814G>C | |
| XM_005258207.2:c.-2+30814G>C | XP_005258264.1:n.-2+30814G>C | |
| XM_005258212.2:c.-2+30814G>C | XP_005258269.1:n.-2+30814G>C | |
| XM_005258216.3:c.-2+30814G>C | XP_005258273.1:n.-2+30814G>C | |
| XM_005258217.2:c.-2+30814G>C | XP_005258274.1:n.-2+30814G>C | |
| XM_005258218.2:c.-2+30814G>C | XP_005258275.1:n.-2+30814G>C | |
| XM_005258219.3:c.-2+30814G>C | XP_005258276.1:n.-2+30814G>C | |
| XM_005258220.2:c.-2+30814G>C | XP_005258277.1:n.-2+30814G>C | |
| XM_005258221.3:c.-2+30814G>C | XP_005258278.1:n.-2+30814G>C | |
| XM_005258222.3:c.-2+30814G>C | XP_005258279.1:n.-2+30814G>C | |
| XM_005258223.2:c.-2+30814G>C | XP_005258280.1:n.-2+30814G>C | |
| XM_006722395.2:c.-2+30814G>C | XP_006722458.1:n.-2+30814G>C | |
| XM_006722396.2:c.-2+30814G>C | XP_006722459.1:n.-2+30814G>C | |
| XM_006722397.2:c.-41G>C | XP_006722460.1:n.-41G>C | |
| XM_006722398.2:c.-2+26712G>C | XP_006722461.1:n.-2+26712G>C | |
| XM_006722399.2:c.-2+30814G>C | XP_006722462.1:n.-2+30814G>C | |
| XM_006722400.2:c.-2+30814G>C | XP_006722463.1:n.-2+30814G>C | |
| XM_006722401.2:c.-2+30814G>C | XP_006722464.1:n.-2+30814G>C | |
| XM_006722402.2:c.-2+30814G>C | XP_006722465.1:n.-2+30814G>C | |
| XM_006722403.2:c.-2+30814G>C | XP_006722466.1:n.-2+30814G>C | |
| XM_006722404.2:c.-2+30814G>C | XP_006722467.1:n.-2+30814G>C | |
| XM_006722405.2:c.-2+30814G>C | XP_006722468.1:n.-2+30814G>C | |
| XM_006722406.1:c.-2+30814G>C | XP_006722469.1:n.-2+30814G>C | |
| XM_006722407.2:c.-2+30814G>C | XP_006722470.1:n.-2+30814G>C | |
| XM_006722408.2:c.-2+30814G>C | XP_006722471.1:n.-2+30814G>C | |
| XM_006722409.1:c.-2+30814G>C | XP_006722472.1:n.-2+30814G>C | |
| XM_006722410.2:c.-2+30814G>C | XP_006722473.1:n.-2+30814G>C | |
| XM_006722415.1:c.-2+30814G>C | XP_006722478.1:n.-2+30814G>C | |
| XM_011525851.1:c.-2+30814G>C | XP_011524153.1:n.-2+30814G>C | |
| XM_011525852.1:c.-2+30814G>C | XP_011524154.1:n.-2+30814G>C | |
| XM_011525853.1:c.-2+30814G>C | XP_011524155.1:n.-2+30814G>C | |
| XM_005258221.5:c.-2+30814G>C | XP_005258278.1:n.-2+30814G>C | |
| XM_011525853.3:c.-2+30814G>C | XP_011524155.1:n.-2+30814G>C | |
| XM_017025575.2:c.-41G>C | XP_016881064.1:n.-41G>C | |
| XM_017025576.2:c.-2+30814G>C | XP_016881065.1:n.-2+30814G>C | |
| XM_017025577.2:c.-41G>C | XP_016881066.1:n.-41G>C | |
| XM_017025578.2:c.-2+30814G>C | XP_016881067.1:n.-2+30814G>C | |
| XM_017025579.2:c.-41G>C | XP_016881068.1:n.-41G>C | |
| XM_017025580.1:c.-2+30814G>C | XP_016881069.1:n.-2+30814G>C | |
| XM_017025581.2:c.-2+30814G>C | XP_016881070.1:n.-2+30814G>C | |
| XM_017025582.2:c.-41G>C | XP_016881071.1:n.-41G>C | |
| XM_017025584.2:c.-2+30814G>C | XP_016881073.1:n.-2+30814G>C | |
| XM_017025585.2:c.-2+30814G>C | XP_016881074.1:n.-2+30814G>C | |
| XM_017025586.2:c.-2+30814G>C | XP_016881075.1:n.-2+30814G>C | |
| XM_017025587.2:c.-2+30814G>C | XP_016881076.1:n.-2+30814G>C | |
| XM_017025588.2:c.-41G>C | XP_016881077.1:n.-41G>C | |
| XM_017025589.2:c.-2+30814G>C | XP_016881078.1:n.-2+30814G>C | |
| XM_017025590.2:c.-2+30814G>C | XP_016881079.1:n.-2+30814G>C | |
| XM_017025591.2:c.-41G>C | XP_016881080.1:n.-41G>C | |
| XM_017025593.2:c.-2+30814G>C | XP_016881082.1:n.-2+30814G>C | |
| XM_017025594.2:c.-41G>C | XP_016881083.1:n.-41G>C | |
| XM_017025595.1:c.-2+30814G>C | XP_016881084.1:n.-2+30814G>C | |
| XM_017025597.2:c.-2+30814G>C | XP_016881086.1:n.-2+30814G>C | |
| XM_017025598.2:c.-41G>C | XP_016881087.1:n.-41G>C | |
| XM_017025600.2:c.-41G>C | XP_016881089.1:n.-41G>C | |
| XM_017025601.2:c.-2+30814G>C | XP_016881090.1:n.-2+30814G>C | |
| XM_017025602.2:c.-41G>C | XP_016881091.1:n.-41G>C | |
| XM_024451096.1:c.-2+30814G>C | XP_024306864.1:n.-2+30814G>C | |
| XM_024451097.1:c.-2+30814G>C | XP_024306865.1:n.-2+30814G>C | |
| XM_024451098.1:c.-2+30814G>C | XP_024306866.1:n.-2+30814G>C | |
| XR_001753152.1:n.345+30814G>C | ||
| XR_001753153.1:n.345+30814G>C | ||
| XR_001753154.1:n.345+30814G>C | ||
| XR_001753155.1:n.345+30814G>C | ||
| XR_001753156.1:n.345+30814G>C | ||
| XR_001753157.1:n.345+30814G>C | ||
| XR_001753158.1:n.345+30814G>C | ||
| XR_001753159.1:n.345+30814G>C | ||
| XR_001753160.1:n.345+30814G>C | ||
| XR_001753161.1:n.345+30814G>C | ||
| XR_001753162.1:n.345+30814G>C | ||
| XR_001753163.1:n.345+30814G>C | ||
| XR_002958166.1:n.140G>C | ||
| NM_001128175.2:c.-2+30814G>C | NP_001121647.1:n.-2+30814G>C | |
| NM_001198938.2:c.-2+30814G>C | NP_001185867.1:n.-2+30814G>C | |
| NM_001198939.2:c.-2+30814G>C | NP_001185868.1:n.-2+30814G>C | |
| NM_001198940.2:c.-2+30814G>C | NP_001185869.1:n.-2+30814G>C | |
| NM_001198941.2:c.-41G>C | NP_001185870.1:n.-41G>C | |
| NM_001198945.2:c.-2+30814G>C | NP_001185874.1:n.-2+30814G>C | |
| NM_001392.5:c.-2+30814G>C | NP_001383.2:n.-2+30814G>C | |
| NM_032978.7:c.-41G>C | NP_116760.2:n.-41G>C | |
| NM_032979.5:c.-2+30814G>C | NP_116761.2:n.-2+30814G>C | |
| NM_001386753.1:c.-41G>C | NP_001373682.1:n.-41G>C | |
| NM_001386754.1:c.-2+30814G>C | NP_001373683.1:n.-2+30814G>C | |
| NM_001386755.1:c.-2+30814G>C | NP_001373684.1:n.-2+30814G>C | |
| NM_001386756.1:c.-2+30814G>C | NP_001373685.1:n.-2+30814G>C | |
| NM_001386757.1:c.-2+30814G>C | NP_001373686.1:n.-2+30814G>C | |
| NM_001386758.1:c.-41G>C | NP_001373687.1:n.-41G>C | |
| NM_001386759.1:c.-41G>C | NP_001373688.1:n.-41G>C | |
| NM_001386760.1:c.-2+30814G>C | NP_001373689.1:n.-2+30814G>C | |
| NM_001386761.1:c.-2+30814G>C | NP_001373690.1:n.-2+30814G>C | |
| NM_001386762.1:c.-2+30814G>C | NP_001373691.1:n.-2+30814G>C | |
| NM_001386763.1:c.-2+30814G>C | NP_001373692.1:n.-2+30814G>C | |
| NM_001386764.1:c.-2+30814G>C | NP_001373693.1:n.-2+30814G>C | |
| NM_001386765.1:c.-2+30814G>C | NP_001373694.1:n.-2+30814G>C | |
| NM_001386766.1:c.-41G>C | NP_001373695.1:n.-41G>C | |
| NM_001386767.1:c.-41G>C | NP_001373696.1:n.-41G>C | |
| NM_001386768.1:c.-2+30814G>C | NP_001373697.1:n.-2+30814G>C | |
| NM_001386769.1:c.-41G>C | NP_001373698.1:n.-41G>C | |
| NM_001386770.1:c.-2+30814G>C | NP_001373699.1:n.-2+30814G>C | |
| NM_001386771.1:c.-2+30814G>C | NP_001373700.1:n.-2+30814G>C | |
| NM_001386772.1:c.-2+30814G>C | NP_001373701.1:n.-2+30814G>C | |
| NM_001386773.1:c.-2+30814G>C | NP_001373702.1:n.-2+30814G>C | |
| NM_001386774.1:c.-41G>C | NP_001373703.1:n.-41G>C | |
| NM_001386775.1:c.-41G>C | NP_001373704.1:n.-41G>C | |
| NM_001386776.1:c.-2+30814G>C | NP_001373705.1:n.-2+30814G>C | |
| NM_001386777.1:c.-41G>C | NP_001373706.1:n.-41G>C | |
| NM_001386788.1:c.-41G>C | NP_001373717.1:n.-41G>C | |
| NM_001386795.1:c.-41G>C MANE Select | NP_001373724.1:n.-41G>C | |
| NM_032975.4:c.-2+30814G>C | NP_116757.2:n.-2+30814G>C |