Linked Data
ClinVar Variation Id:
542537
dbSNP Id:
rs148575246
ExAC:
3:9974543 G / C
gnomAD v2:
3-9974543-G-C
gnomAD v3:
3-9932859-G-C
gnomAD v4:
3-9932859-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9932859G>C , CM000665.2:g.9932859G>C | GRCh38 |
| NC_000003.11:g.9974543G>C , CM000665.1:g.9974543G>C | GRCh37 |
| NC_000003.10:g.9949543G>C | NCBI36 |
| NG_017069.1:g.4019G>C | |
| NG_029376.1:g.20786G>C | |
| NG_029376.2:g.20762G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412901.6:c.*790+1G>C | ENSP00000399396.1:n.*790+1G>C | |
| ENST00000438091.6:c.1367-94G>C | ENSP00000414609.2:n.1367-94G>C | |
| ENST00000451165.7:c.1319-94G>C | ENSP00000387675.3:n.1319-94G>C | |
| ENST00000469686.6:n.2056-94G>C | ||
| ENST00000696816.1:c.1439-94G>C | ENSP00000512897.1:n.1439-94G>C | |
| ENST00000696817.1:n.1754+1G>C | ||
| ENST00000696818.1:c.*701-94G>C | ENSP00000512898.1:n.*701-94G>C | |
| ENST00000696819.1:c.*755-94G>C | ENSP00000512899.1:n.*755-94G>C | |
| ENST00000696820.1:n.1850-94G>C | ||
| ENST00000696821.1:n.1895-94G>C | ||
| ENST00000696822.1:c.*701-94G>C | ENSP00000512900.1:n.*701-94G>C | |
| ENST00000696823.1:c.1391-94G>C | ENSP00000512901.1:n.1391-94G>C | |
| ENST00000696824.1:c.1445-94G>C | ENSP00000512902.1:n.1445-94G>C | |
| ENST00000696825.1:c.1436-94G>C | ENSP00000512903.1:n.1436-94G>C | |
| ENST00000696826.1:c.1388-94G>C | ENSP00000512904.1:n.1388-94G>C | |
| ENST00000696827.1:c.*132-94G>C | ENSP00000512905.1:n.*132-94G>C | |
| ENST00000696828.1:c.1424-94G>C | ENSP00000512906.1:n.1424-94G>C | |
| ENST00000696829.1:c.*877-94G>C | ENSP00000512907.1:n.*877-94G>C | |
| ENST00000696830.1:c.1406G>C | ENSP00000512908.1:p.Gly469Ala | |
| ENST00000696832.1:c.1307-94G>C | ENSP00000512910.1:n.1307-94G>C | |
| ENST00000696835.1:c.*629+156G>C | ENSP00000512913.1:n.*629+156G>C | |
| ENST00000696836.1:c.*629+156G>C | ENSP00000512914.1:n.*629+156G>C | |
| ENST00000696837.1:c.*1458+156G>C | ENSP00000512915.1:n.*1458+156G>C | |
| ENST00000696838.1:c.*629+156G>C | ENSP00000512916.1:n.*629+156G>C | |
| ENST00000696839.1:c.*629+156G>C | ENSP00000512917.1:n.*629+156G>C | |
| ENST00000681970.1:n.647+156G>C | ||
| ENST00000682122.1:c.1387+156G>C | ENSP00000507036.1:n.1387+156G>C | |
| ENST00000683061.1:n.1849+156G>C | ||
| ENST00000683484.1:c.1399+156G>C | ENSP00000507040.1:n.1399+156G>C | |
| ENST00000383812.9:c.1477+1G>C | ENSP00000373323.4:n.1477+1G>C | |
| ENST00000403601.8:c.1522+1G>C MANE Select | ENSP00000384969.3:n.1522+1G>C | |
| ENST00000498214.6:c.*1198+1G>C | ENSP00000497013.1:n.*1198+1G>C | |
| ENST00000673677.1:c.251+156G>C | ENSP00000500985.1:n.251+156G>C | |
| ENST00000674067.1:c.31+156G>C | ENSP00000501009.1:n.31+156G>C | |
| ENST00000295981.7:c.1735+1G>C | ENSP00000295981.3:n.1735+1G>C | |
| ENST00000383812.8:c.1477+1G>C | ENSP00000373323.4:n.1477+1G>C | |
| ENST00000403601.7:c.1522+1G>C | ENSP00000384969.3:n.1522+1G>C | |
| ENST00000413608.2:c.1484-94G>C | ENSP00000396064.1:n.1484-94G>C | |
| ENST00000416074.6:c.1433-94G>C | ENSP00000395315.3:n.1433-94G>C | |
| ENST00000451231.5:c.*906-94G>C | ENSP00000410834.1:n.*906-94G>C | |
| ENST00000451271.5:c.*1216-94G>C | ENSP00000412777.1:n.*1216-94G>C | |
| ENST00000455057.5:c.1426+1G>C | ENSP00000407894.1:n.1426+1G>C | |
| ENST00000461995.5:n.667-94G>C | ||
| ENST00000465794.1:n.373G>C | ||
| ENST00000466046.5:n.1906+1G>C | ||
| ENST00000483582.5:n.1696G>C | ||
| ENST00000494365.5:n.1835+1G>C | ||
| ENST00000497387.5:n.1198-94G>C | ||
| ENST00000498214.5:n.1681+1G>C | ||
| NM_001203263.1:c.1484-94G>C | NP_001190192.1:n.1484-94G>C | |
| NM_001203264.1:c.1433-94G>C | NP_001190193.1:n.1433-94G>C | |
| NM_001203265.1:c.1426+1G>C | NP_001190194.1:n.1426+1G>C | |
| NM_032732.5:c.1477+1G>C | NP_116121.2:n.1477+1G>C | |
| NM_153460.3:c.1522+1G>C | NP_703190.1:n.1522+1G>C | |
| NM_153461.3:c.1735+1G>C | NP_703191.1:n.1735+1G>C | |
| NR_037807.1:n.1930+1G>C | ||
| XM_017007326.1:c.1738+1G>C | XP_016862815.1:n.1738+1G>C | |
| XM_017007327.1:c.1700-94G>C | XP_016862816.1:n.1700-94G>C | |
| XM_017007328.1:c.1699+1G>C | XP_016862817.1:n.1699+1G>C | |
| XM_017007329.1:c.1697-94G>C | XP_016862818.1:n.1697-94G>C | |
| XM_017007330.1:c.1696+1G>C | XP_016862819.1:n.1696+1G>C | |
| XM_017007331.1:c.1693+1G>C | XP_016862820.1:n.1693+1G>C | |
| XM_017007332.1:c.1690+1G>C | XP_016862821.1:n.1690+1G>C | |
| XM_017007333.1:c.1684+1G>C | XP_016862822.1:n.1684+1G>C | |
| XM_017007334.1:c.1663+1G>C | XP_016862823.1:n.1663+1G>C | |
| XM_017007335.1:c.1651+1G>C | XP_016862824.1:n.1651+1G>C | |
| XM_017007336.1:c.1646-94G>C | XP_016862825.1:n.1646-94G>C | |
| XM_017007337.1:c.1618+1G>C | XP_016862826.1:n.1618+1G>C | |
| XM_017007338.1:c.1613-94G>C | XP_016862827.1:n.1613-94G>C | |
| XM_017007339.1:c.1601-94G>C | XP_016862828.1:n.1601-94G>C | |
| XM_017007340.2:c.1525+1G>C | XP_016862829.1:n.1525+1G>C | |
| XM_017007341.2:c.1480+1G>C | XP_016862830.1:n.1480+1G>C | |
| XM_017007342.1:c.1450+1G>C | XP_016862831.1:n.1450+1G>C | |
| XM_017007343.1:c.1447+1G>C | XP_016862832.1:n.1447+1G>C | |
| XM_017007344.2:c.1445-94G>C | XP_016862833.1:n.1445-94G>C | |
| XM_017007345.2:c.1441+1G>C | XP_016862834.1:n.1441+1G>C | |
| XM_017007346.2:c.1439-94G>C | XP_016862835.1:n.1439-94G>C | |
| XM_017007347.1:c.1405+1G>C | XP_016862836.1:n.1405+1G>C | |
| XM_017007348.2:c.1387+1G>C | XP_016862837.1:n.1387+1G>C | |
| XM_017007349.1:c.1364-94G>C | XP_016862838.1:n.1364-94G>C | |
| XM_024453793.1:c.1652-94G>C | XP_024309561.1:n.1652-94G>C | |
| XM_024453794.1:c.1600+1G>C | XP_024309562.1:n.1600+1G>C | |
| NM_001367278.1:c.1445-94G>C | NP_001354207.1:n.1445-94G>C | |
| NM_001367279.1:c.1364-94G>C | NP_001354208.1:n.1364-94G>C | |
| NM_001367280.1:c.1439-94G>C | NP_001354209.1:n.1439-94G>C | |
| NM_153460.4:c.1522+1G>C MANE Select | NP_703190.2:n.1522+1G>C | |
| NM_001203263.2:c.1484-94G>C | NP_001190192.2:n.1484-94G>C | |
| NM_001203265.2:c.1426+1G>C | NP_001190194.2:n.1426+1G>C | |
| NM_032732.6:c.1477+1G>C | NP_116121.3:n.1477+1G>C | |
| NM_153461.4:c.1735+1G>C | NP_703191.2:n.1735+1G>C | |
| NR_037807.2:n.1906+1G>C | ||
| NM_001203264.2:c.1433-94G>C | NP_001190193.2:n.1433-94G>C |