Linked Data
ClinVar Variation Id:
432520
ClinVar RCV Id:
RCV000498221
dbSNP Id:
rs559955121
ExAC:
3:9959039 C / T
gnomAD v2:
3-9959039-C-T
gnomAD v3:
3-9917355-C-T
gnomAD v4:
3-9917355-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9917355C>T , CM000665.2:g.9917355C>T | GRCh38 |
| NC_000003.11:g.9959039C>T , CM000665.1:g.9959039C>T | GRCh37 |
| NC_000003.10:g.9934039C>T | NCBI36 |
| NG_029376.1:g.5282C>T | |
| NG_029376.2:g.5258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412901.6:c.40C>T | ENSP00000399396.1:p.Arg14Ter | |
| ENST00000436503.6:c.40C>T | ENSP00000401128.2:p.Arg14Ter | |
| ENST00000438091.6:c.40C>T | ENSP00000414609.2:p.Arg14Ter | |
| ENST00000451165.7:c.40C>T | ENSP00000387675.3:p.Arg14Ter | |
| ENST00000469686.6:n.258C>T | ||
| ENST00000696815.1:c.40C>T | ENSP00000512896.1:p.Arg14Ter | |
| ENST00000696816.1:c.40C>T | ENSP00000512897.1:p.Arg14Ter | |
| ENST00000696817.1:n.240C>T | ||
| ENST00000696818.1:c.40C>T | ENSP00000512898.1:p.Arg14Ter | |
| ENST00000696819.1:c.40C>T | ENSP00000512899.1:p.Arg14Ter | |
| ENST00000696820.1:n.240C>T | ||
| ENST00000696821.1:n.240C>T | ||
| ENST00000696822.1:c.40C>T | ENSP00000512900.1:p.Arg14Ter | |
| ENST00000696823.1:c.40C>T | ENSP00000512901.1:p.Arg14Ter | |
| ENST00000696824.1:c.40C>T | ENSP00000512902.1:p.Arg14Ter | |
| ENST00000696825.1:c.40C>T | ENSP00000512903.1:p.Arg14Ter | |
| ENST00000696826.1:c.40C>T | ENSP00000512904.1:p.Arg14Ter | |
| ENST00000696827.1:c.40C>T | ENSP00000512905.1:p.Arg14Ter | |
| ENST00000696828.1:c.40C>T | ENSP00000512906.1:p.Arg14Ter | |
| ENST00000696829.1:c.40C>T | ENSP00000512907.1:p.Arg14Ter | |
| ENST00000696830.1:c.40C>T | ENSP00000512908.1:p.Arg14Ter | |
| ENST00000696831.1:c.40C>T | ENSP00000512909.1:p.Arg14Ter | |
| ENST00000696832.1:c.40C>T | ENSP00000512910.1:p.Arg14Ter | |
| ENST00000696835.1:c.40C>T | ENSP00000512913.1:p.Arg14Ter | |
| ENST00000696836.1:c.40C>T | ENSP00000512914.1:p.Arg14Ter | |
| ENST00000696837.1:c.40C>T | ENSP00000512915.1:p.Arg14Ter | |
| ENST00000696838.1:c.40C>T | ENSP00000512916.1:p.Arg14Ter | |
| ENST00000696839.1:c.40C>T | ENSP00000512917.1:p.Arg14Ter | |
| ENST00000682122.1:c.40C>T | ENSP00000507036.1:p.Arg14Ter | |
| ENST00000683061.1:n.240C>T | ||
| ENST00000683484.1:c.40C>T | ENSP00000507040.1:p.Arg14Ter | |
| ENST00000383812.9:c.40C>T | ENSP00000373323.4:p.Arg14Ter | |
| ENST00000403601.8:c.40C>T MANE Select | ENSP00000384969.3:p.Arg14Ter | |
| ENST00000498214.6:c.40C>T | ENSP00000497013.1:p.Arg14Ter | |
| ENST00000295981.7:c.40C>T | ENSP00000295981.3:p.Arg14Ter | |
| ENST00000383812.8:c.40C>T | ENSP00000373323.4:p.Arg14Ter | |
| ENST00000403601.7:c.40C>T | ENSP00000384969.3:p.Arg14Ter | |
| ENST00000412901.5:c.40C>T | ENSP00000399396.1:p.Arg14Ter | |
| ENST00000413608.2:c.40C>T | ENSP00000396064.1:p.Arg14Ter | |
| ENST00000416074.6:c.40C>T | ENSP00000395315.3:p.Arg14Ter | |
| ENST00000424206.5:c.40C>T | ENSP00000390080.1:p.Arg14Ter | |
| ENST00000434756.5:c.40C>T | ENSP00000394996.1:p.Arg14Ter | |
| ENST00000436503.5:c.40C>T | ENSP00000401128.1:p.Arg14Ter | |
| ENST00000438091.5:c.40C>T | ENSP00000414609.1:p.Arg14Ter | |
| ENST00000440502.5:c.40C>T | ENSP00000413914.1:p.Arg14Ter | |
| ENST00000451165.5:c.40C>T | ENSP00000387675.1:p.Arg14Ter | |
| ENST00000451231.5:c.40C>T | ENSP00000410834.1:p.Arg14Ter | |
| ENST00000451271.5:c.40C>T | ENSP00000412777.1:p.Arg14Ter | |
| ENST00000455057.5:c.40C>T | ENSP00000407894.1:p.Arg14Ter | |
| ENST00000466046.5:n.258C>T | ||
| ENST00000469686.5:n.258C>T | ||
| ENST00000476810.5:c.40C>T | ENSP00000432564.1:p.Arg14Ter | |
| ENST00000481032.1:n.254C>T | ||
| ENST00000483582.5:n.258C>T | ||
| ENST00000490512.5:n.214C>T | ||
| ENST00000494365.5:n.247C>T | ||
| ENST00000497102.5:n.247C>T | ||
| ENST00000498214.5:n.247C>T | ||
| NM_001203263.1:c.40C>T | NP_001190192.1:p.Arg14Ter | |
| NM_001203264.1:c.40C>T | NP_001190193.1:p.Arg14Ter | |
| NM_001203265.1:c.40C>T | NP_001190194.1:p.Arg14Ter | |
| NM_032732.5:c.40C>T | NP_116121.2:p.Arg14Ter | |
| NM_153460.3:c.40C>T | NP_703190.1:p.Arg14Ter | |
| NM_153461.3:c.40C>T | NP_703191.1:p.Arg14Ter | |
| NR_037807.1:n.282C>T | ||
| XM_017007326.1:c.40C>T | XP_016862815.1:p.Arg14Ter | |
| XM_017007327.1:c.40C>T | XP_016862816.1:p.Arg14Ter | |
| XM_017007328.1:c.40C>T | XP_016862817.1:p.Arg14Ter | |
| XM_017007329.1:c.40C>T | XP_016862818.1:p.Arg14Ter | |
| XM_017007330.1:c.40C>T | XP_016862819.1:p.Arg14Ter | |
| XM_017007331.1:c.40C>T | XP_016862820.1:p.Arg14Ter | |
| XM_017007332.1:c.40C>T | XP_016862821.1:p.Arg14Ter | |
| XM_017007333.1:c.40C>T | XP_016862822.1:p.Arg14Ter | |
| XM_017007334.1:c.40C>T | XP_016862823.1:p.Arg14Ter | |
| XM_017007335.1:c.40C>T | XP_016862824.1:p.Arg14Ter | |
| XM_017007336.1:c.40C>T | XP_016862825.1:p.Arg14Ter | |
| XM_017007337.1:c.40C>T | XP_016862826.1:p.Arg14Ter | |
| XM_017007338.1:c.40C>T | XP_016862827.1:p.Arg14Ter | |
| XM_017007339.1:c.40C>T | XP_016862828.1:p.Arg14Ter | |
| XM_017007340.2:c.40C>T | XP_016862829.1:p.Arg14Ter | |
| XM_017007341.2:c.40C>T | XP_016862830.1:p.Arg14Ter | |
| XM_017007342.1:c.40C>T | XP_016862831.1:p.Arg14Ter | |
| XM_017007343.1:c.40C>T | XP_016862832.1:p.Arg14Ter | |
| XM_017007344.2:c.40C>T | XP_016862833.1:p.Arg14Ter | |
| XM_017007345.2:c.40C>T | XP_016862834.1:p.Arg14Ter | |
| XM_017007346.2:c.40C>T | XP_016862835.1:p.Arg14Ter | |
| XM_017007347.1:c.40C>T | XP_016862836.1:p.Arg14Ter | |
| XM_017007348.2:c.40C>T | XP_016862837.1:p.Arg14Ter | |
| XM_017007349.1:c.40C>T | XP_016862838.1:p.Arg14Ter | |
| XM_024453793.1:c.40C>T | XP_024309561.1:p.Arg14Ter | |
| XM_024453794.1:c.40C>T | XP_024309562.1:p.Arg14Ter | |
| NM_001367278.1:c.40C>T | NP_001354207.1:p.Arg14Ter | |
| NM_001367279.1:c.40C>T | NP_001354208.1:p.Arg14Ter | |
| NM_001367280.1:c.40C>T | NP_001354209.1:p.Arg14Ter | |
| NM_153460.4:c.40C>T MANE Select | NP_703190.2:p.Arg14Ter | |
| NM_001203263.2:c.40C>T | NP_001190192.2:p.Arg14Ter | |
| NM_001203265.2:c.40C>T | NP_001190194.2:p.Arg14Ter | |
| NM_032732.6:c.40C>T | NP_116121.3:p.Arg14Ter | |
| NM_153461.4:c.40C>T | NP_703191.2:p.Arg14Ter | |
| NR_037807.2:n.258C>T | ||
| NM_001203264.2:c.40C>T | NP_001190193.2:p.Arg14Ter |