COSMIC:
COSM6352313 (not active)
COSM6352314 (not active)
COSM6352315 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71065263 (NFE)
Genomes Max Group AF
0.70614573 (NFE)
Exomes Max Group AF
0.71064219 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71695444T>C , CM000672.2:g.71695444T>C | GRCh38 |
| NC_000010.10:g.73455201T>C , CM000672.1:g.73455201T>C | GRCh37 |
| NC_000010.9:g.73125207T>C | NCBI36 |
| NG_008835.1:g.303498T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.2316T>C MANE Select | ENSP00000224721.9:p.Asn772= | |
| ENST00000398809.9:c.2316T>C | ENSP00000381789.5:p.Asn772= | |
| ENST00000442677.4:c.2316T>C | ENSP00000388894.3:p.Asn772= | |
| ENST00000466757.8:c.1747T>C | ||
| ENST00000224721.10:c.2331T>C | ENSP00000224721.8:p.Asn777= | |
| ENST00000299366.11:c.2316T>C | ENSP00000299366.8:p.Asn772= | |
| ENST00000398809.8:c.2316T>C | ENSP00000381789.5:p.Asn772= | |
| ENST00000442677.3:c.1091T>C | ||
| ENST00000466757.7:c.1747T>C | ||
| ENST00000616684.4:c.2316T>C | ENSP00000482036.2:p.Asn772= | |
| ENST00000622827.4:c.2316T>C | ENSP00000483211.1:p.Asn772= | |
| NM_001171930.1:c.2316T>C | NP_001165401.1:p.Asn772= | |
| NM_001171931.1:c.2316T>C | NP_001165402.1:p.Asn772= | |
| NM_022124.5:c.2316T>C | NP_071407.4:p.Asn772= | |
| XM_006717940.2:c.2511T>C | XP_006718003.1:p.Asn837= | |
| XM_006717942.2:c.2445T>C | XP_006718005.1:p.Asn815= | |
| XM_011540039.1:c.2511T>C | XP_011538341.1:p.Asn837= | |
| XM_011540040.1:c.2505T>C | XP_011538342.1:p.Asn835= | |
| XM_011540041.1:c.2451T>C | XP_011538343.1:p.Asn817= | |
| XM_011540042.1:c.2511T>C | XP_011538344.1:p.Asn837= | |
| XM_011540043.1:c.2511T>C | XP_011538345.1:p.Asn837= | |
| XM_011540044.1:c.2376T>C | XP_011538346.1:p.Asn792= | |
| XM_011540045.1:c.2511T>C | XP_011538347.1:p.Asn837= | |
| XM_011540046.1:c.1971T>C | XP_011538348.1:p.Asn657= | |
| XM_011540047.1:c.1329T>C | XP_011538349.1:p.Asn443= | |
| XM_011540048.1:c.2511T>C | XP_011538350.1:p.Asn837= | |
| XM_011540049.1:c.2511T>C | XP_011538351.1:p.Asn837= | |
| XM_011540050.1:c.2511T>C | XP_011538352.1:p.Asn837= | |
| XM_011540051.1:c.2511T>C | XP_011538353.1:p.Asn837= | |
| XM_011540053.1:c.2511T>C | XP_011538355.1:p.Asn837= | |
| XM_011540054.1:c.2451T>C | XP_011538356.1:p.Asn817= | |
| XR_945796.1:n.2754T>C | ||
| NM_001171930.2:c.2316T>C | NP_001165401.1:p.Asn772= | |
| NM_001171931.2:c.2316T>C | NP_001165402.1:p.Asn772= | |
| NM_022124.6:c.2316T>C MANE Select | NP_071407.4:p.Asn772= |