ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04444173 (MID)
Genomes Max Group AF
0.02127675 (AMR)
Exomes Max Group AF
0.04505776 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108874950A>C , CM000671.2:g.108874950A>C | GRCh38 |
| NC_000009.11:g.111637230A>C , CM000671.1:g.111637230A>C | GRCh37 |
| NC_000009.10:g.110677051A>C | NCBI36 |
| NG_008788.1:g.64379T>G , LRG_251:g.64379T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374647.10:c.3876T>G MANE Select | ENSP00000363779.5:p.Thr1292= | |
| ENST00000495759.6:c.*2486T>G | ENSP00000433514.2:n.*2486T>G | |
| ENST00000674535.1:c.3855+3045T>G | ENSP00000502142.1:n.3855+3045T>G | |
| ENST00000674704.1:n.6961T>G | ||
| ENST00000674740.1:n.759T>G | ||
| ENST00000674836.1:n.4489T>G | ||
| ENST00000674890.1:c.*1111T>G | ENSP00000501870.1:n.*1111T>G | |
| ENST00000674938.1:c.3534T>G | ENSP00000502427.1:p.Thr1178= | |
| ENST00000674948.1:c.3534T>G | ENSP00000501602.1:p.Thr1178= | |
| ENST00000675052.1:c.3876T>G | ENSP00000502664.1:p.Thr1292= | |
| ENST00000675078.1:c.*79T>G | ENSP00000501549.1:n.*79T>G | |
| ENST00000675215.1:c.*3100T>G | ENSP00000502558.1:n.*3100T>G | |
| ENST00000675233.1:n.5703T>G | ||
| ENST00000675252.1:n.1752T>G | ||
| ENST00000675321.1:c.3764T>G | ENSP00000502751.1:n.3764T>G | |
| ENST00000675325.1:n.5833T>G | ||
| ENST00000675335.1:c.3907T>G | ENSP00000502182.1:n.3907T>G | |
| ENST00000675400.1:n.5728T>G | ||
| ENST00000675406.1:c.3876T>G | ENSP00000501893.1:p.Thr1292= | |
| ENST00000675458.1:c.3969T>G | ENSP00000501754.1:n.3969T>G | |
| ENST00000675507.1:n.5775T>G | ||
| ENST00000675535.1:c.*1503T>G | ENSP00000501667.1:n.*1503T>G | |
| ENST00000675566.1:n.5727T>G | ||
| ENST00000675580.1:n.1029T>G | ||
| ENST00000675602.1:n.6924T>G | ||
| ENST00000675647.1:n.5040T>G | ||
| ENST00000675711.1:c.3993T>G | ENSP00000502485.1:n.3993T>G | |
| ENST00000675727.1:c.*176T>G | ENSP00000501722.1:n.*176T>G | |
| ENST00000675748.1:n.5510T>G | ||
| ENST00000675765.1:c.*1259T>G | ENSP00000502640.1:n.*1259T>G | |
| ENST00000675825.1:c.3918T>G | ENSP00000502632.1:p.Thr1306= | |
| ENST00000675877.1:n.5720T>G | ||
| ENST00000675893.1:c.*4945T>G | ENSP00000502001.1:n.*4945T>G | |
| ENST00000675943.1:n.7491T>G | ||
| ENST00000675979.1:c.*3119T>G | ENSP00000502208.1:n.*3119T>G | |
| ENST00000676044.1:c.*1536T>G | ENSP00000502378.1:n.*1536T>G | |
| ENST00000676086.1:n.5661T>G | ||
| ENST00000676121.1:n.5704T>G | ||
| ENST00000676162.1:n.605T>G | ||
| ENST00000676237.1:c.3819T>G | ENSP00000501828.1:p.Thr1273= | |
| ENST00000676416.1:c.3576T>G | ENSP00000501660.1:p.Thr1192= | |
| ENST00000676424.1:n.5714T>G | ||
| ENST00000676429.1:n.8345T>G | ||
| ENST00000374647.9:c.3876T>G | ENSP00000363779.5:p.Thr1292= | |
| ENST00000495759.5:c.1119T>G | ||
| ENST00000537196.1:c.2829T>G | ENSP00000439367.1:p.Thr943= | |
| NM_003640.3:c.3876T>G , LRG_251t1:c.3876T>G | NP_003631.2:p.Thr1292= | |
| XM_005252285.2:c.3534T>G | XP_005252342.1:p.Thr1178= | |
| XM_011519136.1:c.3918T>G | XP_011517438.1:p.Thr1306= | |
| XM_011519137.1:c.3576T>G | XP_011517439.1:p.Thr1192= | |
| NM_001318360.1:c.3534T>G | NP_001305289.1:p.Thr1178= | |
| NM_001330749.1:c.2829T>G | NP_001317678.1:p.Thr943= | |
| NM_003640.4:c.3876T>G | NP_003631.2:p.Thr1292= | |
| XM_011519136.2:c.3918T>G | XP_011517438.1:p.Thr1306= | |
| XR_929859.3:n.4265T>G | ||
| NM_003640.5:c.3876T>G MANE Select | NP_003631.2:p.Thr1292= | |
| NM_001318360.2:c.3534T>G | NP_001305289.1:p.Thr1178= | |
| NM_001330749.2:c.2829T>G | NP_001317678.1:p.Thr943= |