COSMIC:
COSM6226643 (not active)
COSM6226644 (not active)
Revel Score:
ENST00000261304 (MANE Select)
0.891
ENST00000544807
0.891
ENST00000393569
0.891
ENST00000393568
0.891
ENST00000445021
0.891
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016217 (NFE)
Genomes Max Group AF
0.00013496 (NFE)
Exomes Max Group AF
0.00017148 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87988206G>A , CM000676.2:g.87988206G>A | GRCh38 |
| NC_000014.8:g.88454550G>A , CM000676.1:g.88454550G>A | GRCh37 |
| NC_000014.7:g.87524303G>A | NCBI36 |
| NG_011853.2:g.10358C>T | |
| NG_011853.3:g.10358C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.266C>T MANE Select | ENSP00000261304.2:p.Pro89Leu | |
| ENST00000261304.6:c.266C>T | ENSP00000261304.2:p.Pro89Leu | |
| ENST00000393568.8:c.197C>T | ENSP00000377198.4:p.Pro66Leu | |
| ENST00000393569.6:c.188C>T | ENSP00000377199.2:p.Pro63Leu | |
| ENST00000474294.6:n.256C>T | ||
| ENST00000544807.6:c.98C>T | ENSP00000437513.2:p.Pro33Leu | |
| ENST00000554372.5:c.266C>T | ENSP00000451884.1:p.Pro89Leu | |
| ENST00000554916.5:n.145C>T | ||
| ENST00000555956.1:n.71C>T | ||
| ENST00000556879.5:c.326C>T | ENSP00000452208.1:n.326C>T | |
| ENST00000557316.5:c.266C>T | ENSP00000452314.1:p.Pro89Leu | |
| ENST00000622264.4:c.256C>T | ||
| NM_000153.3:c.266C>T | NP_000144.2:p.Pro89Leu | |
| NM_001201401.1:c.197C>T | NP_001188330.1:p.Pro66Leu | |
| NM_001201402.1:c.188C>T | NP_001188331.1:p.Pro63Leu | |
| XM_011536618.1:c.98C>T | XP_011534920.1:p.Pro33Leu | |
| XM_011536618.2:c.98C>T | XP_011534920.1:p.Pro33Leu | |
| NM_000153.4:c.266C>T MANE Select | NP_000144.2:p.Pro89Leu | |
| NM_001201401.2:c.197C>T | NP_001188330.1:p.Pro66Leu | |
| NM_001201402.2:c.188C>T | NP_001188331.1:p.Pro63Leu |