COSMIC:
COSM6353445
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12860143 (EAS)
Genomes Max Group AF
0.13874462 (EAS)
Exomes Max Group AF
0.12633911 (EAS)
Revel Score:
ENST00000274695 (MANE Select)
0.350
ENST00000378624
0.350
ENST00000378610
0.350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21065218C>T , CM000668.2:g.21065218C>T | GRCh38 |
| NC_000006.11:g.21065449C>T , CM000668.1:g.21065449C>T | GRCh37 |
| NC_000006.10:g.21173428C>T | NCBI36 |
| NG_021195.1:g.535762C>T | |
| NG_021195.2:g.535762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274695.8:c.1226C>T MANE Select | ENSP00000274695.4:p.Pro409Leu | |
| ENST00000378610.1:c.1226C>T | ENSP00000367873.1:p.Pro409Leu | |
| NM_017774.3:c.1226C>T MANE Select | NP_060244.2:p.Pro409Leu | |
| XM_006715128.2:c.1226C>T | XP_006715191.1:p.Pro409Leu | |
| XM_011514718.1:c.1226C>T | XP_011513020.1:p.Pro409Leu | |
| XM_011514719.1:c.1226C>T | XP_011513021.1:p.Pro409Leu | |
| XR_926265.1:n.1393C>T | ||
| XR_926266.1:n.1506C>T | ||
| XR_926267.1:n.1393C>T | ||
| XM_011514719.2:c.1226C>T | XP_011513021.1:p.Pro409Leu | |
| XM_017010986.1:c.1226C>T | XP_016866475.1:p.Pro409Leu | |
| XM_017010987.1:c.368C>T | XP_016866476.1:p.Pro123Leu | |
| XM_024446481.1:c.1226C>T | XP_024302249.1:p.Pro409Leu | |
| XR_001743495.2:n.1398C>T | ||
| XR_001743496.2:n.1793C>T | ||
| XR_001743498.2:n.3125C>T | ||
| XR_001743499.2:n.719C>T | ||
| XR_001743500.1:n.1226C>T | ||
| XR_001743501.1:n.1226C>T | ||
| XR_926265.2:n.1393C>T | ||
| XR_926266.2:n.1506C>T | ||
| XR_926267.2:n.1393C>T |