COSMIC:
COSM1566682 (not active)
Revel Score:
ENST00000233025
0.007
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53157037 (AMR)
Genomes Max Group AF
0.51654974 (AFR)
Exomes Max Group AF
0.53669886 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52706166C>G , CM000665.2:g.52706166C>G | GRCh38 |
| NC_000003.11:g.52740182C>G , CM000665.1:g.52740182C>G | GRCh37 |
| NC_000003.10:g.52715222C>G | NCBI36 |
| NG_053026.1:g.69784G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619898.5:c.-81C>G MANE Select | ENSP00000478310.2:n.-81C>G | |
| ENST00000233025.11:c.121C>G | ENSP00000233025.7:p.Pro41Ala | |
| ENST00000423431.5:c.-30-478C>G | ENSP00000391610.1:n.-30-478C>G | |
| ENST00000448693.2:n.58C>G | ||
| ENST00000474945.1:n.24C>G | ||
| ENST00000602728.1:c.-81C>G | ENSP00000473265.1:n.-81C>G | |
| ENST00000619898.4:c.121C>G | ENSP00000478310.1:p.Pro41Ala | |
| NM_014041.3:c.121C>G | NP_054760.3:p.Pro41Ala | |
| NM_014041.4:c.-81C>G | NP_054760.4:n.-81C>G | |
| NM_014041.5:c.-81C>G MANE Select | NP_054760.4:n.-81C>G |