ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012999 (NFE)
Genomes Max Group AF
0.00010176 (NFE)
Exomes Max Group AF
0.000128 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108903609T>C , CM000671.2:g.108903609T>C | GRCh38 |
| NC_000009.11:g.111665889T>C , CM000671.1:g.111665889T>C | GRCh37 |
| NC_000009.10:g.110705710T>C | NCBI36 |
| NG_008788.1:g.35720A>G , LRG_251:g.35720A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.1704A>G MANE Select | ENSP00000363779.5:p.Ser568= | |
| ENST00000495759.6:c.*314A>G | ENSP00000433514.2:n.*314A>G | |
| ENST00000674535.1:c.1704A>G | ENSP00000502142.1:p.Ser568= | |
| ENST00000674704.1:n.3511A>G | ||
| ENST00000674836.1:n.2009A>G | ||
| ENST00000674890.1:c.1704A>G | ENSP00000501870.1:p.Ser568= | |
| ENST00000674938.1:c.1362A>G | ENSP00000502427.1:p.Ser454= | |
| ENST00000674948.1:c.1362A>G | ENSP00000501602.1:p.Ser454= | |
| ENST00000675052.1:c.1704A>G | ENSP00000502664.1:p.Ser568= | |
| ENST00000675078.1:c.1704A>G | ENSP00000501549.1:p.Ser568= | |
| ENST00000675215.1:c.*928A>G | ENSP00000502558.1:n.*928A>G | |
| ENST00000675233.1:n.3531A>G | ||
| ENST00000675321.1:c.1704A>G | ENSP00000502751.1:p.Ser568= | |
| ENST00000675325.1:n.3500A>G | ||
| ENST00000675335.1:c.1735A>G | ENSP00000502182.1:n.1735A>G | |
| ENST00000675400.1:n.3377A>G | ||
| ENST00000675406.1:c.1704A>G | ENSP00000501893.1:p.Ser568= | |
| ENST00000675458.1:c.1797A>G | ENSP00000501754.1:n.1797A>G | |
| ENST00000675507.1:n.3500A>G | ||
| ENST00000675535.1:c.1704A>G | ENSP00000501667.1:p.Ser568= | |
| ENST00000675566.1:n.3500A>G | ||
| ENST00000675602.1:n.4752A>G | ||
| ENST00000675647.1:n.2009A>G | ||
| ENST00000675711.1:c.1704A>G | ENSP00000502485.1:p.Ser568= | |
| ENST00000675727.1:c.1704A>G | ENSP00000501722.1:p.Ser568= | |
| ENST00000675748.1:n.3338A>G | ||
| ENST00000675765.1:c.1704A>G | ENSP00000502640.1:p.Ser568= | |
| ENST00000675825.1:c.1704A>G | ENSP00000502632.1:p.Ser568= | |
| ENST00000675877.1:n.2009A>G | ||
| ENST00000675893.1:c.*2773A>G | ENSP00000502001.1:n.*2773A>G | |
| ENST00000675943.1:n.5319A>G | ||
| ENST00000675979.1:c.*947A>G | ENSP00000502208.1:n.*947A>G | |
| ENST00000676044.1:c.1704A>G | ENSP00000502378.1:p.Ser568= | |
| ENST00000676086.1:n.3489A>G | ||
| ENST00000676121.1:n.3532A>G | ||
| ENST00000676237.1:c.1605A>G | ENSP00000501828.1:p.Ser535= | |
| ENST00000676416.1:c.1362A>G | ENSP00000501660.1:p.Ser454= | |
| ENST00000676424.1:n.3500A>G | ||
| ENST00000676429.1:n.6173A>G | ||
| ENST00000374647.9:c.1704A>G | ENSP00000363779.5:p.Ser568= | |
| ENST00000537196.1:c.657A>G | ENSP00000439367.1:p.Ser219= | |
| NM_003640.3:c.1704A>G , LRG_251t1:c.1704A>G | NP_003631.2:p.Ser568= | |
| XM_005252285.2:c.1362A>G | XP_005252342.1:p.Ser454= | |
| XM_011519136.1:c.1704A>G | XP_011517438.1:p.Ser568= | |
| XM_011519137.1:c.1362A>G | XP_011517439.1:p.Ser454= | |
| XR_929859.1:n.2020A>G | ||
| NM_001318360.1:c.1362A>G | NP_001305289.1:p.Ser454= | |
| NM_001330749.1:c.657A>G | NP_001317678.1:p.Ser219= | |
| NM_003640.4:c.1704A>G | NP_003631.2:p.Ser568= | |
| XM_011519136.2:c.1704A>G | XP_011517438.1:p.Ser568= | |
| XR_929859.3:n.2031A>G | ||
| NM_003640.5:c.1704A>G MANE Select | NP_003631.2:p.Ser568= | |
| NM_001318360.2:c.1362A>G | NP_001305289.1:p.Ser454= | |
| NM_001330749.2:c.657A>G | NP_001317678.1:p.Ser219= |