COSMIC:
COSM3762900 (not active)
Revel Score:
ENST00000297268 (MANE Select)
0.290
ENST00000545487
0.290
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92838135 (EAS)
Genomes Max Group AF
0.89434189 (EAS)
Exomes Max Group AF
0.93047333 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94413927C>G , CM000669.2:g.94413927C>G | GRCh38 |
| NC_000007.13:g.94043239C>G , CM000669.1:g.94043239C>G | GRCh37 |
| NC_000007.12:g.93881175C>G | NCBI36 |
| NG_007405.1:g.24367C>G , LRG_2:g.24367C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.1645C>G MANE Select | ENSP00000297268.6:p.Pro549Ala | |
| ENST00000297268.10:c.1645C>G | ENSP00000297268.6:p.Pro549Ala | |
| ENST00000488298.5:n.69C>G | ||
| ENST00000620463.1:c.1639C>G | ENSP00000477719.1:p.Pro547Ala | |
| NM_000089.3:c.1645C>G , LRG_2t1:c.1645C>G | NP_000080.2:p.Pro549Ala | |
| NM_000089.4:c.1645C>G MANE Select | NP_000080.2:p.Pro549Ala |