ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023505 (NFE)
Genomes Max Group AF
0.00034222 (NFE)
Exomes Max Group AF
0.00022239 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108901528A>G , CM000671.2:g.108901528A>G | GRCh38 |
| NC_000009.11:g.111663808A>G , CM000671.1:g.111663808A>G | GRCh37 |
| NC_000009.10:g.110703629A>G | NCBI36 |
| NG_008788.1:g.37801T>C , LRG_251:g.37801T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.1911T>C MANE Select | ENSP00000363779.5:p.Val637= | |
| ENST00000495759.6:c.*521T>C | ENSP00000433514.2:n.*521T>C | |
| ENST00000674535.1:c.1911T>C | ENSP00000502142.1:p.Val637= | |
| ENST00000674704.1:n.3718T>C | ||
| ENST00000674836.1:n.2216T>C | ||
| ENST00000674890.1:c.1911T>C | ENSP00000501870.1:p.Val637= | |
| ENST00000674938.1:c.1569T>C | ENSP00000502427.1:p.Val523= | |
| ENST00000674948.1:c.1569T>C | ENSP00000501602.1:p.Val523= | |
| ENST00000675052.1:c.1911T>C | ENSP00000502664.1:p.Val637= | |
| ENST00000675078.1:c.1911T>C | ENSP00000501549.1:p.Val637= | |
| ENST00000675215.1:c.*1135T>C | ENSP00000502558.1:n.*1135T>C | |
| ENST00000675233.1:n.3738T>C | ||
| ENST00000675321.1:c.1911T>C | ENSP00000502751.1:p.Val637= | |
| ENST00000675325.1:n.3707T>C | ||
| ENST00000675335.1:c.1942T>C | ENSP00000502182.1:n.1942T>C | |
| ENST00000675400.1:n.3584T>C | ||
| ENST00000675406.1:c.1911T>C | ENSP00000501893.1:p.Val637= | |
| ENST00000675458.1:c.2004T>C | ENSP00000501754.1:n.2004T>C | |
| ENST00000675507.1:n.3707T>C | ||
| ENST00000675535.1:c.1911T>C | ENSP00000501667.1:p.Val637= | |
| ENST00000675566.1:n.3707T>C | ||
| ENST00000675602.1:n.4959T>C | ||
| ENST00000675647.1:n.2216T>C | ||
| ENST00000675711.1:c.1911T>C | ENSP00000502485.1:p.Val637= | |
| ENST00000675727.1:c.1911T>C | ENSP00000501722.1:p.Val637= | |
| ENST00000675748.1:n.3545T>C | ||
| ENST00000675765.1:c.1911T>C | ENSP00000502640.1:p.Val637= | |
| ENST00000675825.1:c.1911T>C | ENSP00000502632.1:p.Val637= | |
| ENST00000675877.1:n.2216T>C | ||
| ENST00000675893.1:c.*2980T>C | ENSP00000502001.1:n.*2980T>C | |
| ENST00000675943.1:n.5526T>C | ||
| ENST00000675979.1:c.*1154T>C | ENSP00000502208.1:n.*1154T>C | |
| ENST00000676044.1:c.1911T>C | ENSP00000502378.1:p.Val637= | |
| ENST00000676086.1:n.3696T>C | ||
| ENST00000676121.1:n.3739T>C | ||
| ENST00000676237.1:c.1812T>C | ENSP00000501828.1:p.Val604= | |
| ENST00000676416.1:c.1569T>C | ENSP00000501660.1:p.Val523= | |
| ENST00000676424.1:n.3707T>C | ||
| ENST00000676429.1:n.6380T>C | ||
| ENST00000374647.9:c.1911T>C | ENSP00000363779.5:p.Val637= | |
| ENST00000537196.1:c.864T>C | ENSP00000439367.1:p.Val288= | |
| NM_003640.3:c.1911T>C , LRG_251t1:c.1911T>C | NP_003631.2:p.Val637= | |
| XM_005252285.2:c.1569T>C | XP_005252342.1:p.Val523= | |
| XM_011519136.1:c.1911T>C | XP_011517438.1:p.Val637= | |
| XM_011519137.1:c.1569T>C | XP_011517439.1:p.Val523= | |
| XR_929859.1:n.2227T>C | ||
| NM_001318360.1:c.1569T>C | NP_001305289.1:p.Val523= | |
| NM_001330749.1:c.864T>C | NP_001317678.1:p.Val288= | |
| NM_003640.4:c.1911T>C | NP_003631.2:p.Val637= | |
| XM_011519136.2:c.1911T>C | XP_011517438.1:p.Val637= | |
| XR_929859.3:n.2238T>C | ||
| NM_003640.5:c.1911T>C MANE Select | NP_003631.2:p.Val637= | |
| NM_001318360.2:c.1569T>C | NP_001305289.1:p.Val523= | |
| NM_001330749.2:c.864T>C | NP_001317678.1:p.Val288= |