Linked Data
ClinVar Variation Id:
43291
dbSNP Id:
rs397516321
ExAC:
11:76916643 C / T
gnomAD v2:
11-76916643-C-T
gnomAD v3:
11-77205598-C-T
gnomAD v4:
11-77205598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77205598C>T , CM000673.2:g.77205598C>T | GRCh38 |
| NC_000011.9:g.76916643C>T , CM000673.1:g.76916643C>T | GRCh37 |
| NC_000011.8:g.76594291C>T | NCBI36 |
| NG_009086.1:g.82334C>T | |
| NG_009086.2:g.82353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5617C>T MANE Select | ENSP00000386331.3:p.Arg1873Trp | |
| ENST00000670577.1:c.3444C>T | ||
| ENST00000409619.6:c.5470C>T | ENSP00000386635.2:p.Arg1824Trp | |
| ENST00000409709.7:c.5617C>T | ENSP00000386331.3:p.Arg1873Trp | |
| ENST00000458169.2:c.3043C>T | ENSP00000417017.2:p.Arg1015Trp | |
| ENST00000458637.6:c.5503C>T | ENSP00000392185.2:p.Arg1835Trp | |
| ENST00000481328.7:n.3153C>T | ||
| ENST00000605744.1:n.238C>T | ||
| NM_000260.3:c.5617C>T | NP_000251.3:p.Arg1873Trp | |
| NM_001127180.1:c.5503C>T | NP_001120652.1:p.Arg1835Trp | |
| XM_005274012.2:c.5500C>T | XP_005274069.1:p.Arg1834Trp | |
| XM_006718558.2:c.5608C>T | XP_006718621.1:p.Arg1870Trp | |
| XM_006718559.2:c.5503C>T | XP_006718622.1:p.Arg1835Trp | |
| XM_006718560.2:c.5500C>T | XP_006718623.1:p.Arg1834Trp | |
| XM_006718561.2:c.5503C>T | XP_006718624.1:p.Arg1835Trp | |
| XM_011545044.1:c.5617C>T | XP_011543346.1:p.Arg1873Trp | |
| XM_011545045.1:c.5611C>T | XP_011543347.1:p.Arg1871Trp | |
| XM_011545046.1:c.5584C>T | XP_011543348.1:p.Arg1862Trp | |
| XM_011545047.1:c.5521C>T | XP_011543349.1:p.Arg1841Trp | |
| XM_011545048.1:c.5392C>T | XP_011543350.1:p.Arg1798Trp | |
| XM_011545049.1:c.5380C>T | XP_011543351.1:p.Arg1794Trp | |
| XM_011545050.1:c.5353C>T | XP_011543352.1:p.Arg1785Trp | |
| XM_011545051.1:c.5617C>T | XP_011543353.1:p.Arg1873Trp | |
| XM_011545052.1:c.5532C>T | XP_011543354.1:p.Asn1844= | |
| XR_949938.1:n.5937C>T | ||
| XR_949941.1:n.5937C>T | ||
| XR_949942.1:n.5840C>T | ||
| XM_011545044.2:c.5617C>T | XP_011543346.1:p.Arg1873Trp | |
| XM_011545046.2:c.5707C>T | XP_011543348.2:p.Arg1903Trp | |
| XM_011545050.2:c.5353C>T | XP_011543352.1:p.Arg1785Trp | |
| XM_017017778.1:c.5701C>T | XP_016873267.1:p.Arg1901Trp | |
| XM_017017779.1:c.5698C>T | XP_016873268.1:p.Arg1900Trp | |
| XM_017017780.1:c.5707C>T | XP_016873269.1:p.Arg1903Trp | |
| XM_017017781.1:c.5611C>T | XP_016873270.1:p.Arg1871Trp | |
| XM_017017782.1:c.5593C>T | XP_016873271.1:p.Arg1865Trp | |
| XM_017017783.1:c.5590C>T | XP_016873272.1:p.Arg1864Trp | |
| XM_017017784.1:c.5590C>T | XP_016873273.1:p.Arg1864Trp | |
| XM_017017785.1:c.5470C>T | XP_016873274.1:p.Arg1824Trp | |
| XM_017017786.1:c.5707C>T | XP_016873275.1:p.Arg1903Trp | |
| XM_017017788.1:c.5593C>T | XP_016873277.1:p.Arg1865Trp | |
| XR_001747885.1:n.5722C>T | ||
| XR_001747886.1:n.5637C>T | ||
| XR_001747887.1:n.5708C>T | ||
| XR_001747888.1:n.5623C>T | ||
| NM_000260.4:c.5617C>T MANE Select | NP_000251.3:p.Arg1873Trp | |
| NM_001127180.2:c.5503C>T | NP_001120652.1:p.Arg1835Trp | |
| NM_001369365.1:c.5470C>T | NP_001356294.1:p.Arg1824Trp |