Linked Data
ClinVar Variation Id:
372245
dbSNP Id:
rs143600903
ExAC:
3:9970030 C / T
gnomAD v2:
3-9970030-C-T
gnomAD v3:
3-9928346-C-T
gnomAD v4:
3-9928346-C-T
PubMed:
PMID:25918342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9928346C>T , CM000665.2:g.9928346C>T | GRCh38 |
| NC_000003.11:g.9970030C>T , CM000665.1:g.9970030C>T | GRCh37 |
| NC_000003.10:g.9945030C>T | NCBI36 |
| NG_029376.1:g.16273C>T | |
| NG_029376.2:g.16249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412901.6:c.*187C>T | ENSP00000399396.1:n.*187C>T | |
| ENST00000436503.6:c.844C>T | ENSP00000401128.2:p.Gln282Ter | |
| ENST00000438091.6:c.799C>T | ENSP00000414609.2:p.Gln267Ter | |
| ENST00000451165.7:c.805C>T | ENSP00000387675.3:p.Gln269Ter | |
| ENST00000469686.6:n.1491C>T | ||
| ENST00000696815.1:c.835C>T | ENSP00000512896.1:p.Gln279Ter | |
| ENST00000696816.1:c.874C>T | ENSP00000512897.1:p.Gln292Ter | |
| ENST00000696817.1:n.1330C>T | ||
| ENST00000696818.1:c.*187C>T | ENSP00000512898.1:n.*187C>T | |
| ENST00000696819.1:c.*187C>T | ENSP00000512899.1:n.*187C>T | |
| ENST00000696820.1:n.1285C>T | ||
| ENST00000696821.1:n.1330C>T | ||
| ENST00000696822.1:c.*187C>T | ENSP00000512900.1:n.*187C>T | |
| ENST00000696823.1:c.874C>T | ENSP00000512901.1:p.Gln292Ter | |
| ENST00000696824.1:c.880C>T | ENSP00000512902.1:p.Gln294Ter | |
| ENST00000696825.1:c.874C>T | ENSP00000512903.1:p.Gln292Ter | |
| ENST00000696826.1:c.874C>T | ENSP00000512904.1:p.Gln292Ter | |
| ENST00000696827.1:c.874C>T | ENSP00000512905.1:p.Gln292Ter | |
| ENST00000696828.1:c.859C>T | ENSP00000512906.1:p.Gln287Ter | |
| ENST00000696829.1:c.*437C>T | ENSP00000512907.1:n.*437C>T | |
| ENST00000696830.1:c.799C>T | ENSP00000512908.1:p.Gln267Ter | |
| ENST00000696832.1:c.799C>T | ENSP00000512910.1:p.Gln267Ter | |
| ENST00000696833.1:c.19C>T | ENSP00000512911.1:p.Gln7Ter | |
| ENST00000696834.1:c.11C>T | ||
| ENST00000696835.1:c.*187C>T | ENSP00000512913.1:n.*187C>T | |
| ENST00000696836.1:c.*187C>T | ENSP00000512914.1:n.*187C>T | |
| ENST00000696837.1:c.*1016C>T | ENSP00000512915.1:n.*1016C>T | |
| ENST00000696838.1:c.*187C>T | ENSP00000512916.1:n.*187C>T | |
| ENST00000696839.1:c.*187C>T | ENSP00000512917.1:n.*187C>T | |
| ENST00000681970.1:n.205C>T | ||
| ENST00000682122.1:c.874C>T | ENSP00000507036.1:p.Gln292Ter | |
| ENST00000683061.1:n.1285C>T | ||
| ENST00000683484.1:c.835C>T | ENSP00000507040.1:p.Gln279Ter | |
| ENST00000383812.9:c.874C>T | ENSP00000373323.4:p.Gln292Ter | |
| ENST00000403601.8:c.919C>T MANE Select | ENSP00000384969.3:p.Gln307Ter | |
| ENST00000498214.6:c.*774C>T | ENSP00000497013.1:n.*774C>T | |
| ENST00000295981.7:c.1132C>T | ENSP00000295981.3:p.Gln378Ter | |
| ENST00000383812.8:c.874C>T | ENSP00000373323.4:p.Gln292Ter | |
| ENST00000403601.7:c.919C>T | ENSP00000384969.3:p.Gln307Ter | |
| ENST00000412901.5:c.*187C>T | ENSP00000399396.1:n.*187C>T | |
| ENST00000413608.2:c.919C>T | ENSP00000396064.1:p.Gln307Ter | |
| ENST00000416074.6:c.919C>T | ENSP00000395315.3:p.Gln307Ter | |
| ENST00000434756.5:c.*392C>T | ENSP00000394996.1:n.*392C>T | |
| ENST00000436503.5:c.844C>T | ENSP00000401128.1:p.Gln282Ter | |
| ENST00000438091.5:c.799C>T | ENSP00000414609.1:p.Gln267Ter | |
| ENST00000451231.5:c.*392C>T | ENSP00000410834.1:n.*392C>T | |
| ENST00000451271.5:c.*702C>T | ENSP00000412777.1:n.*702C>T | |
| ENST00000455057.5:c.874C>T | ENSP00000407894.1:p.Gln292Ter | |
| ENST00000461995.5:n.102C>T | ||
| ENST00000464406.5:n.367C>T | ||
| ENST00000466046.5:n.1303C>T | ||
| ENST00000483582.5:n.1092C>T | ||
| ENST00000494365.5:n.1292C>T | ||
| ENST00000498214.5:n.1257C>T | ||
| NM_001203263.1:c.919C>T | NP_001190192.1:p.Arg307Ter | |
| NM_001203264.1:c.919C>T | NP_001190193.1:p.Arg307Ter | |
| NM_001203265.1:c.874C>T | NP_001190194.1:p.Arg292Ter | |
| NM_032732.5:c.874C>T | NP_116121.2:p.Arg292Ter | |
| NM_153460.3:c.919C>T | NP_703190.1:p.Arg307Ter | |
| NM_153461.3:c.1132C>T | NP_703191.1:p.Arg378Ter | |
| NR_037807.1:n.1327C>T | ||
| XM_017007326.1:c.1132C>T | XP_016862815.1:p.Gln378Ter | |
| XM_017007327.1:c.1132C>T | XP_016862816.1:p.Gln378Ter | |
| XM_017007328.1:c.1093C>T | XP_016862817.1:p.Gln365Ter | |
| XM_017007329.1:c.1132C>T | XP_016862818.1:p.Gln378Ter | |
| XM_017007330.1:c.1093C>T | XP_016862819.1:p.Gln365Ter | |
| XM_017007331.1:c.1087C>T | XP_016862820.1:p.Gln363Ter | |
| XM_017007332.1:c.1087C>T | XP_016862821.1:p.Gln363Ter | |
| XM_017007333.1:c.1132C>T | XP_016862822.1:p.Gln378Ter | |
| XM_017007334.1:c.1057C>T | XP_016862823.1:p.Gln353Ter | |
| XM_017007335.1:c.1048C>T | XP_016862824.1:p.Gln350Ter | |
| XM_017007336.1:c.1132C>T | XP_016862825.1:p.Gln378Ter | |
| XM_017007337.1:c.1012C>T | XP_016862826.1:p.Gln338Ter | |
| XM_017007338.1:c.1048C>T | XP_016862827.1:p.Gln350Ter | |
| XM_017007339.1:c.1087C>T | XP_016862828.1:p.Gln363Ter | |
| XM_017007340.2:c.919C>T | XP_016862829.1:p.Gln307Ter | |
| XM_017007341.2:c.874C>T | XP_016862830.1:p.Gln292Ter | |
| XM_017007342.1:c.844C>T | XP_016862831.1:p.Gln282Ter | |
| XM_017007343.1:c.844C>T | XP_016862832.1:p.Gln282Ter | |
| XM_017007344.2:c.880C>T | XP_016862833.1:p.Gln294Ter | |
| XM_017007345.2:c.835C>T | XP_016862834.1:p.Gln279Ter | |
| XM_017007346.2:c.874C>T | XP_016862835.1:p.Gln292Ter | |
| XM_017007347.1:c.799C>T | XP_016862836.1:p.Gln267Ter | |
| XM_017007348.2:c.835C>T | XP_016862837.1:p.Gln279Ter | |
| XM_017007349.1:c.799C>T | XP_016862838.1:p.Gln267Ter | |
| XM_024453793.1:c.1087C>T | XP_024309561.1:p.Gln363Ter | |
| XM_024453794.1:c.1048C>T | XP_024309562.1:p.Gln350Ter | |
| NM_001367278.1:c.880C>T | NP_001354207.1:p.Gln294Ter | |
| NM_001367279.1:c.799C>T | NP_001354208.1:p.Gln267Ter | |
| NM_001367280.1:c.874C>T | NP_001354209.1:p.Gln292Ter | |
| NM_153460.4:c.919C>T MANE Select | NP_703190.2:p.Gln307Ter | |
| NM_001203263.2:c.919C>T | NP_001190192.2:p.Gln307Ter | |
| NM_001203265.2:c.874C>T | NP_001190194.2:p.Gln292Ter | |
| NM_032732.6:c.874C>T | NP_116121.3:p.Gln292Ter | |
| NM_153461.4:c.1132C>T | NP_703191.2:p.Gln378Ter | |
| NR_037807.2:n.1303C>T | ||
| NM_001203264.2:c.919C>T | NP_001190193.2:p.Gln307Ter |