COSMIC:
COSM3722792 (not active)
Revel Score:
ENST00000526417
0.051
ENST00000300589
0.051
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26884604 (NFE)
Genomes Max Group AF
0.26456924 (NFE)
Exomes Max Group AF
0.26893254 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50710713C>T , CM000678.2:g.50710713C>T | GRCh38 |
| NC_000016.9:g.50744624C>T , CM000678.1:g.50744624C>T | GRCh37 |
| NC_000016.8:g.49302125C>T | NCBI36 |
| NG_007508.1:g.18575C>T , LRG_177:g.18575C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.721C>T | ENSP00000493088.1:p.Pro241Ser | |
| ENST00000646677.2:c.721C>T | ENSP00000496533.1:p.Pro241Ser | |
| ENST00000641284.1:c.721C>T | ENSP00000493088.1:p.Pro241Ser | |
| ENST00000646677.1:c.721C>T | ENSP00000496533.1:p.Pro241Ser | |
| ENST00000647318.2:c.721C>T MANE Select | ENSP00000495993.1:p.Pro241Ser | |
| ENST00000300589.6:c.802C>T | ENSP00000300589.2:p.Pro268Ser | |
| ENST00000526417.6:n.862C>T | ||
| ENST00000527070.5:c.*1417C>T | ENSP00000435149.1:n.*1417C>T | |
| ENST00000532206.1:n.800C>T | ||
| NM_001293557.1:c.721C>T | NP_001280486.1:p.Pro241Ser | |
| NM_022162.2:c.802C>T | NP_071445.1:p.Pro268Ser | |
| XM_005256084.2:c.721C>T | XP_005256141.1:p.Pro241Ser | |
| XM_006721242.2:c.721C>T | XP_006721305.1:p.Pro241Ser | |
| XM_006721243.2:c.721C>T | XP_006721306.1:p.Pro241Ser | |
| XM_011523257.1:c.298C>T | XP_011521559.1:p.Pro100Ser | |
| XM_011523258.1:c.298C>T | XP_011521560.1:p.Pro100Ser | |
| XM_011523259.1:c.136C>T | XP_011521561.1:p.Pro46Ser | |
| XM_011523260.1:c.721C>T | XP_011521562.1:p.Pro241Ser | |
| XM_011523261.1:c.721C>T | XP_011521563.1:p.Pro241Ser | |
| XR_429725.2:n.811C>T | ||
| XR_429726.2:n.811C>T | ||
| XR_933387.1:n.811C>T | ||
| XM_005256084.4:c.721C>T | XP_005256141.1:p.Pro241Ser | |
| XM_006721242.4:c.721C>T | XP_006721305.1:p.Pro241Ser | |
| XM_006721243.4:c.721C>T | XP_006721306.1:p.Pro241Ser | |
| XM_011523259.2:c.136C>T | XP_011521561.1:p.Pro46Ser | |
| XM_011523260.3:c.721C>T | XP_011521562.1:p.Pro241Ser | |
| XM_011523261.2:c.721C>T | XP_011521563.1:p.Pro241Ser | |
| XM_017023535.1:c.229C>T | XP_016879024.1:p.Pro77Ser | |
| XM_017023536.1:c.136C>T | XP_016879025.1:p.Pro46Ser | |
| XM_017023537.1:c.136C>T | XP_016879026.1:p.Pro46Ser | |
| XM_017023538.1:c.136C>T | XP_016879027.1:p.Pro46Ser | |
| XR_429725.3:n.764C>T | ||
| XR_429726.3:n.764C>T | ||
| XR_933387.2:n.764C>T | ||
| NM_001293557.2:c.721C>T | NP_001280486.1:p.Pro241Ser | |
| NM_001370466.1:c.721C>T MANE Select | NP_001357395.1:p.Pro241Ser | |
| NM_022162.3:c.802C>T | NP_071445.1:p.Pro268Ser | |
| NR_163434.1:n.786C>T |