Linked Data
ClinVar Variation Id:
471610
dbSNP Id:
rs200543521
ExAC:
8:144998495 G / A
gnomAD v2:
8-144998495-G-A
gnomAD v3:
8-143924327-G-A
gnomAD v4:
8-143924327-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143924327G>A , CM000670.2:g.143924327G>A | GRCh38 |
| NC_000008.10:g.144998495G>A , CM000670.1:g.144998495G>A | GRCh37 |
| NC_000008.9:g.145070483G>A | NCBI36 |
| NG_012492.1:g.57419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.5734C>T | ENSP00000437303.2:p.Arg1912Trp | |
| ENST00000685198.1:c.5653C>T | ENSP00000510528.1:p.Arg1885Trp | |
| ENST00000687971.1:c.5320C>T | ENSP00000510788.1:p.Arg1774Trp | |
| ENST00000693060.1:c.5533C>T | ENSP00000510329.1:p.Arg1845Trp | |
| ENST00000345136.8:c.5602C>T MANE Select | ENSP00000344848.3:p.Arg1868Trp | |
| ENST00000527303.2:c.4126-1932C>T | ENSP00000433982.2:n.4126-1932C>T | |
| ENST00000322810.8:c.6013C>T | ENSP00000323856.4:p.Arg2005Trp | |
| ENST00000345136.7:c.5602C>T | ENSP00000344848.3:p.Arg1868Trp | |
| ENST00000354589.7:c.5602C>T | ENSP00000346602.3:p.Arg1868Trp | |
| ENST00000354958.6:c.5536C>T | ENSP00000347044.2:p.Arg1846Trp | |
| ENST00000356346.7:c.5560C>T MANE Plus Clinical | ENSP00000348702.3:p.Arg1854Trp | |
| ENST00000357649.6:c.5614C>T | ENSP00000350277.2:p.Arg1872Trp | |
| ENST00000398774.6:c.5506C>T | ENSP00000381756.2:p.Arg1836Trp | |
| ENST00000436759.6:c.5683C>T | ENSP00000388180.2:p.Arg1895Trp | |
| ENST00000527096.5:c.5671C>T | ENSP00000434583.1:p.Arg1891Trp | |
| ENST00000527303.1:c.135-1932C>T | ||
| NM_000445.4:c.5683C>T | NP_000436.2:p.Arg1895Trp | |
| NM_201378.3:c.5560C>T | NP_958780.1:p.Arg1854Trp | |
| NM_201379.2:c.5536C>T | NP_958781.1:p.Arg1846Trp | |
| NM_201380.3:c.6013C>T | NP_958782.1:p.Arg2005Trp | |
| NM_201381.2:c.5506C>T | NP_958783.1:p.Arg1836Trp | |
| NM_201382.3:c.5602C>T | NP_958784.1:p.Arg1868Trp | |
| NM_201383.2:c.5614C>T | NP_958785.1:p.Arg1872Trp | |
| NM_201384.2:c.5602C>T | NP_958786.1:p.Arg1868Trp | |
| XM_005250976.2:c.6028C>T | XP_005251033.1:p.Arg2010Trp | |
| XM_005250978.2:c.5629C>T | XP_005251035.1:p.Arg1877Trp | |
| XM_005250979.3:c.5617C>T | XP_005251036.1:p.Arg1873Trp | |
| XM_005250980.3:c.5617C>T | XP_005251037.1:p.Arg1873Trp | |
| XM_005250981.2:c.5575C>T | XP_005251038.1:p.Arg1859Trp | |
| XM_005250982.2:c.5551C>T | XP_005251039.1:p.Arg1851Trp | |
| XM_005250983.2:c.5533C>T | XP_005251040.1:p.Arg1845Trp | |
| XM_005250984.3:c.5521C>T | XP_005251041.1:p.Arg1841Trp | |
| XM_006716588.2:c.5698C>T | XP_006716651.1:p.Arg1900Trp | |
| XM_006716589.2:c.5548C>T | XP_006716652.1:p.Arg1850Trp | |
| XM_006716590.2:c.5548C>T | XP_006716653.1:p.Arg1850Trp | |
| XM_011517130.1:c.5617C>T | XP_011515432.1:p.Arg1873Trp | |
| XM_011517131.1:c.5533C>T | XP_011515433.1:p.Arg1845Trp | |
| XM_011517132.1:c.4072-1932C>T | XP_011515434.1:n.4072-1932C>T | |
| XM_005250976.4:c.6028C>T | XP_005251033.1:p.Arg2010Trp | |
| XM_005250978.3:c.5629C>T | XP_005251035.1:p.Arg1877Trp | |
| XM_005250979.4:c.5617C>T | XP_005251036.1:p.Arg1873Trp | |
| XM_005250980.4:c.5617C>T | XP_005251037.1:p.Arg1873Trp | |
| XM_005250981.3:c.5575C>T | XP_005251038.1:p.Arg1859Trp | |
| XM_005250982.4:c.5551C>T | XP_005251039.1:p.Arg1851Trp | |
| XM_005250984.5:c.5521C>T | XP_005251041.1:p.Arg1841Trp | |
| XM_006716588.3:c.5698C>T | XP_006716651.1:p.Arg1900Trp | |
| XM_006716590.3:c.5548C>T | XP_006716653.1:p.Arg1850Trp | |
| XM_011517130.2:c.5617C>T | XP_011515432.1:p.Arg1873Trp | |
| XM_011517131.2:c.5533C>T | XP_011515433.1:p.Arg1845Trp | |
| XM_011517132.2:c.4072-1932C>T | XP_011515434.1:n.4072-1932C>T | |
| NM_000445.5:c.5683C>T | NP_000436.2:p.Arg1895Trp | |
| NM_201378.4:c.5560C>T MANE Plus Clinical | NP_958780.1:p.Arg1854Trp | |
| NM_201379.3:c.5536C>T | NP_958781.1:p.Arg1846Trp | |
| NM_201380.4:c.6013C>T | NP_958782.1:p.Arg2005Trp | |
| NM_201381.3:c.5506C>T | NP_958783.1:p.Arg1836Trp | |
| NM_201382.4:c.5602C>T | NP_958784.1:p.Arg1868Trp | |
| NM_201383.3:c.5614C>T | NP_958785.1:p.Arg1872Trp | |
| NM_201384.3:c.5602C>T MANE Select | NP_958786.1:p.Arg1868Trp |