COSMIC:
COSM4145984 (not active)
Revel Score:
ENST00000397542 (MANE Select)
0.025
ENST00000358353
0.025
ENST00000349570
0.025
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99833587 (NFE)
Genomes Max Group AF
0.99336324 (NFE)
Exomes Max Group AF
0.99830152 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.617967C>G , CM000673.2:g.617967C>G | GRCh38 |
| NC_000011.9:g.617967C>G , CM000673.1:g.617967C>G | GRCh37 |
| NC_000011.8:g.607967C>G | NCBI36 |
| NG_029106.1:g.3033G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358353.8:c.2087G>C | ENSP00000351118.4:p.Cys696Ser | |
| ENST00000397542.7:c.2105G>C MANE Select | ENSP00000380676.2:p.Cys702Ser | |
| ENST00000674088.1:c.2105G>C | ENSP00000501074.1:p.Cys702Ser | |
| ENST00000349570.11:c.1523G>C | ENSP00000345726.7:p.Cys508Ser | |
| ENST00000358353.7:c.2105G>C | ENSP00000351118.3:p.Cys702Ser | |
| ENST00000397542.6:c.2105G>C | ENSP00000380676.2:p.Cys702Ser | |
| ENST00000531177.5:c.*1937G>C | ENSP00000437255.1:n.*1937G>C | |
| XM_006718253.2:c.1865G>C | XP_006718316.1:p.Cys622Ser | |
| XM_011520188.1:c.1772G>C | XP_011518490.1:p.Cys591Ser | |
| XM_011520189.1:c.1679G>C | XP_011518491.1:p.Cys560Ser | |
| XM_011520190.1:c.1438G>C | XP_011518492.1:p.Val480Leu | |
| XM_011520191.1:c.1379-197G>C | XP_011518493.1:n.1379-197G>C | |
| XM_006718253.3:c.1865G>C | XP_006718316.1:p.Cys622Ser | |
| XM_011520188.2:c.1772G>C | XP_011518490.1:p.Cys591Ser | |
| XM_011520189.2:c.1679G>C | XP_011518491.1:p.Cys560Ser | |
| XM_011520190.2:c.1438G>C | XP_011518492.1:p.Val480Leu | |
| XM_011520191.2:c.1379-197G>C | XP_011518493.1:n.1379-197G>C | |
| NM_001171968.2:c.2087G>C | NP_001165439.2:p.Cys696Ser | |
| NM_021924.5:c.2105G>C MANE Select | NP_068743.3:p.Cys702Ser | |
| NM_031264.4:c.1523G>C | NP_112554.3:p.Cys508Ser | |
| NM_001171968.3:c.2087G>C | NP_001165439.2:p.Cys696Ser | |
| NM_031264.5:c.1523G>C | NP_112554.3:p.Cys508Ser |