COSMIC:
COSM3747059 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8612826 (EAS)
Genomes Max Group AF
0.84854636 (EAS)
Exomes Max Group AF
0.86066386 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65636574G>A , CM000663.2:g.65636574G>A | GRCh38 |
| NC_000001.10:g.66102257G>A , CM000663.1:g.66102257G>A | GRCh37 |
| NC_000001.9:g.65874845G>A | NCBI36 |
| NG_015831.2:g.221010G>A , LRG_283:g.221010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349533.11:c.3057G>A MANE Select | ENSP00000330393.7:p.Pro1019= | |
| ENST00000349533.10:c.3057G>A | ENSP00000330393.6:p.Pro1019= | |
| ENST00000406510.7:c.258G>A | ENSP00000384025.3:p.Pro86= | |
| NM_002303.5:c.3057G>A , LRG_283t3:c.3057G>A | NP_002294.2:p.Pro1019= | |
| NM_002303.6:c.3057G>A MANE Select | NP_002294.2:p.Pro1019= |