Linked Data
ClinVar Variation Id:
499051
dbSNP Id:
rs149664186
ExAC:
1:146765310 C / T
gnomAD v2:
1-146765310-C-T
gnomAD v3:
1-147293626-C-T
gnomAD v4:
1-147293626-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147293626C>T , CM000663.2:g.147293626C>T | GRCh38 |
| NC_000001.10:g.146765310C>T , CM000663.1:g.146765310C>T | GRCh37 |
| NC_000001.9:g.145231934C>T | NCBI36 |
| NG_052905.1:g.125433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361293.10:c.1954C>T | ENSP00000355100.6:p.Gln652Ter | |
| ENST00000431239.6:c.2194C>T | ENSP00000389031.3:p.Gln732Ter | |
| ENST00000650714.1:c.2095C>T | ENSP00000499169.1:p.Gln699Ter | |
| ENST00000650721.1:c.*1238C>T | ENSP00000498234.1:n.*1238C>T | |
| ENST00000650813.1:n.1640C>T | ||
| ENST00000650828.1:c.*2030C>T | ENSP00000499019.1:n.*2030C>T | |
| ENST00000651070.1:c.*1587C>T | ENSP00000498564.1:n.*1587C>T | |
| ENST00000651206.1:c.*1238C>T | ENSP00000498494.1:n.*1238C>T | |
| ENST00000651207.1:c.*2047C>T | ENSP00000499060.1:n.*2047C>T | |
| ENST00000651226.1:c.*2370C>T | ENSP00000498459.1:n.*2370C>T | |
| ENST00000651231.1:c.2385C>T | ||
| ENST00000651407.1:c.*1422C>T | ENSP00000499081.1:n.*1422C>T | |
| ENST00000651410.1:c.*1632C>T | ENSP00000498830.1:n.*1632C>T | |
| ENST00000651420.1:c.*1949C>T | ENSP00000499167.1:n.*1949C>T | |
| ENST00000651510.1:c.*1824C>T | ENSP00000499181.1:n.*1824C>T | |
| ENST00000651820.1:c.2340C>T | ||
| ENST00000652161.1:c.*1793C>T | ENSP00000498703.1:n.*1793C>T | |
| ENST00000652188.1:c.2376C>T | ||
| ENST00000652278.1:c.*2014C>T | ENSP00000499065.1:n.*2014C>T | |
| ENST00000652346.1:c.*1872C>T | ENSP00000498239.1:n.*1872C>T | |
| ENST00000652357.1:c.*1966C>T | ENSP00000498808.1:n.*1966C>T | |
| ENST00000652486.1:c.*1934C>T | ENSP00000499043.1:n.*1934C>T | |
| ENST00000652494.1:c.*1750C>T | ENSP00000499049.1:n.*1750C>T | |
| ENST00000652587.1:c.1267C>T | ENSP00000498899.1:p.Gln423Ter | |
| ENST00000652616.1:c.*2129C>T | ENSP00000499195.1:n.*2129C>T | |
| ENST00000361293.9:c.1567C>T | ENSP00000355100.5:p.Gln523Ter | |
| ENST00000369258.8:c.2410C>T MANE Select | ENSP00000358262.4:p.Gln804Ter | |
| ENST00000369259.4:c.1798C>T | ENSP00000358263.3:p.Gln600Ter | |
| ENST00000431239.5:c.2110C>T | ENSP00000389031.2:p.Gln704Ter | |
| ENST00000467213.5:c.*1091C>T | ENSP00000477985.1:n.*1091C>T | |
| ENST00000488864.5:c.1880C>T | ENSP00000482764.1:n.1880C>T | |
| ENST00000622533.4:c.*2133C>T | ENSP00000480553.1:n.*2133C>T | |
| NM_001256336.1:c.2110C>T | NP_001243265.1:p.Gln704Ter | |
| NM_001256337.1:c.1567C>T | NP_001243266.1:p.Gln523Ter | |
| NM_001256338.1:c.1798C>T | NP_001243267.1:p.Gln600Ter | |
| NM_004284.4:c.2410C>T | NP_004275.4:p.Gln804Ter | |
| NM_024568.2:c.2071C>T | NP_078844.2:p.Gln691Ter | |
| NR_046070.1:n.2288C>T | ||
| XM_006711638.1:c.2095C>T | XP_006711701.1:p.Gln699Ter | |
| XM_006711639.2:c.2071C>T | XP_006711702.1:p.Gln691Ter | |
| NM_001256336.2:c.2110C>T | NP_001243265.1:p.Gln704Ter | |
| NM_001256337.2:c.1567C>T | NP_001243266.1:p.Gln523Ter | |
| NM_001256338.2:c.1798C>T | NP_001243267.1:p.Gln600Ter | |
| NM_001348451.1:c.2194C>T | NP_001335380.1:p.Gln732Ter | |
| NM_001348452.1:c.2194C>T | NP_001335381.1:p.Gln732Ter | |
| NM_001348453.1:c.2071C>T | NP_001335382.1:p.Gln691Ter | |
| NM_001348454.1:c.1954C>T | NP_001335383.1:p.Gln652Ter | |
| NM_001348455.1:c.1921C>T | NP_001335384.1:p.Gln641Ter | |
| NM_001348456.1:c.1567C>T | NP_001335385.1:p.Gln523Ter | |
| NM_001348457.1:c.1567C>T | NP_001335386.1:p.Gln523Ter | |
| NM_001348458.1:c.1567C>T | NP_001335387.1:p.Gln523Ter | |
| NM_001348459.1:c.1567C>T | NP_001335388.1:p.Gln523Ter | |
| NM_001348460.1:c.1567C>T | NP_001335389.1:p.Gln523Ter | |
| NM_001348461.1:c.1567C>T | NP_001335390.1:p.Gln523Ter | |
| NM_001348462.1:c.1567C>T | NP_001335391.1:p.Gln523Ter | |
| NM_001348463.1:c.1567C>T | NP_001335392.1:p.Gln523Ter | |
| NM_001348464.1:c.1567C>T | NP_001335393.1:p.Gln523Ter | |
| NM_001348465.1:c.1567C>T | NP_001335394.1:p.Gln523Ter | |
| NM_001348466.1:c.1567C>T | NP_001335395.1:p.Gln523Ter | |
| NM_004284.5:c.2410C>T | NP_004275.4:p.Gln804Ter | |
| NM_024568.3:c.2071C>T | NP_078844.2:p.Gln691Ter | |
| NR_046070.2:n.2288C>T | ||
| NR_145681.1:n.2210C>T | ||
| NR_145682.1:n.2399C>T | ||
| NR_145683.1:n.2392C>T | ||
| NR_145684.1:n.2279C>T | ||
| NR_145685.1:n.2310C>T | ||
| NR_145686.1:n.2583C>T | ||
| NR_145687.1:n.1520C>T | ||
| NR_145688.1:n.2254C>T | ||
| NR_145689.1:n.2286C>T | ||
| NR_145690.1:n.1950C>T | ||
| NR_145691.1:n.2118C>T | ||
| NR_145692.1:n.2317C>T | ||
| NR_145693.1:n.1900C>T | ||
| NR_145694.1:n.2576C>T | ||
| NR_145695.1:n.2204C>T | ||
| XM_024451049.1:c.1129C>T | XP_024306817.1:p.Gln377Ter | |
| XM_024451050.1:c.1129C>T | XP_024306818.1:p.Gln377Ter | |
| XM_024451051.1:c.1129C>T | XP_024306819.1:p.Gln377Ter | |
| XR_001737550.2:n.2302C>T | ||
| NM_004284.6:c.2410C>T MANE Select | NP_004275.4:p.Gln804Ter | |
| NM_001256336.3:c.2110C>T | NP_001243265.1:p.Gln704Ter | |
| NM_001256337.3:c.1567C>T | NP_001243266.1:p.Gln523Ter | |
| NM_001256338.3:c.1798C>T | NP_001243267.1:p.Gln600Ter | |
| NM_001348451.2:c.2194C>T | NP_001335380.1:p.Gln732Ter | |
| NM_001348453.2:c.2071C>T | NP_001335382.1:p.Gln691Ter | |
| NM_001348454.2:c.1954C>T | NP_001335383.1:p.Gln652Ter | |
| NM_001348455.2:c.1921C>T | NP_001335384.1:p.Gln641Ter | |
| NM_001348456.2:c.1567C>T | NP_001335385.1:p.Gln523Ter | |
| NM_001348457.2:c.1567C>T | NP_001335386.1:p.Gln523Ter | |
| NM_001348458.2:c.1567C>T | NP_001335387.1:p.Gln523Ter | |
| NM_001348459.2:c.1567C>T | NP_001335388.1:p.Gln523Ter | |
| NM_001348460.2:c.1567C>T | NP_001335389.1:p.Gln523Ter | |
| NM_001348461.2:c.1567C>T | NP_001335390.1:p.Gln523Ter | |
| NM_001348462.2:c.1567C>T | NP_001335391.1:p.Gln523Ter | |
| NM_001348463.2:c.1567C>T | NP_001335392.1:p.Gln523Ter | |
| NM_001348464.2:c.1567C>T | NP_001335393.1:p.Gln523Ter | |
| NM_001348465.2:c.1567C>T | NP_001335394.1:p.Gln523Ter | |
| NM_001348466.2:c.1567C>T | NP_001335395.1:p.Gln523Ter | |
| NM_024568.4:c.2071C>T | NP_078844.2:p.Gln691Ter | |
| NR_046070.3:n.2245C>T | ||
| NR_145681.2:n.2167C>T | ||
| NR_145682.2:n.2356C>T | ||
| NR_145683.2:n.2349C>T | ||
| NR_145684.2:n.2236C>T | ||
| NR_145685.2:n.2267C>T | ||
| NR_145686.2:n.2540C>T | ||
| NR_145687.2:n.1477C>T | ||
| NR_145688.2:n.2211C>T | ||
| NR_145689.2:n.2243C>T | ||
| NR_145690.2:n.1907C>T | ||
| NR_145691.2:n.2075C>T | ||
| NR_145692.2:n.2274C>T | ||
| NR_145693.2:n.1857C>T | ||
| NR_145694.2:n.2533C>T | ||
| NR_145695.2:n.2161C>T | ||
| NM_001348452.2:c.2194C>T | NP_001335381.1:p.Gln732Ter |