COSMIC:
COSM440905 (not active)
Revel Score:
ENST00000360566
0.207
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90076741 (AFR)
Genomes Max Group AF
0.89626858 (AFR)
Exomes Max Group AF
0.90110515 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10122793T>G , CM000664.2:g.10122793T>G | GRCh38 |
| NC_000002.11:g.10262920T>G , CM000664.1:g.10262920T>G | GRCh37 |
| NC_000002.10:g.10180371T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304567.10:c.-6T>G MANE Select | ENSP00000302955.4:n.-6T>G | |
| ENST00000641198.1:c.-6T>G | ENSP00000493399.1:n.-6T>G | |
| ENST00000641498.1:c.-6T>G | ENSP00000493425.1:n.-6T>G | |
| ENST00000652660.1:n.64T>G | ||
| ENST00000304567.9:c.-6T>G | ENSP00000302955.4:n.-6T>G | |
| ENST00000360566.6:c.175T>G | ENSP00000353770.2:p.Ser59Ala | |
| ENST00000459969.5:n.82T>G | ||
| ENST00000461327.5:n.55T>G | ||
| ENST00000491447.1:n.42T>G | ||
| ENST00000498343.5:n.55T>G | ||
| ENST00000615152.4:c.175T>G | ENSP00000484183.1:p.Ser59Ala | |
| NM_001034.3:c.-6T>G | NP_001025.1:n.-6T>G | |
| NM_001165931.1:c.175T>G | NP_001159403.1:p.Ser59Ala | |
| NM_001034.4:c.-6T>G MANE Select | NP_001025.1:n.-6T>G | |
| NR_164157.1:n.55T>G |