COSMIC:
COSN14935469 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53070453 (EAS)
Genomes Max Group AF
0.53070453 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4845520A>G , CM000671.2:g.4845520A>G | GRCh38 |
| NC_000009.11:g.4845520A>G , CM000671.1:g.4845520A>G | GRCh37 |
| NC_000009.10:g.4835520A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381750.9:c.867+839A>G MANE Select | ENSP00000371169.4:n.867+839A>G | |
| ENST00000381728.5:c.309+839A>G | ENSP00000371147.1:n.309+839A>G | |
| ENST00000381730.5:c.309+839A>G | ENSP00000371149.1:n.309+839A>G | |
| ENST00000381750.8:c.867+839A>G | ENSP00000371169.4:n.867+839A>G | |
| ENST00000441844.2:c.309+839A>G | ENSP00000413381.1:n.309+839A>G | |
| ENST00000442869.5:c.393+839A>G | ENSP00000412000.2:n.393+839A>G | |
| ENST00000448872.6:c.309+839A>G | ENSP00000388096.2:n.309+839A>G | |
| NM_001286699.1:c.393+839A>G | NP_001273628.1:n.393+839A>G | |
| NM_001286700.1:c.393+839A>G | NP_001273629.1:n.393+839A>G | |
| NM_001286701.1:c.309+839A>G | NP_001273630.1:n.309+839A>G | |
| NM_005772.4:c.867+839A>G | NP_005763.3:n.867+839A>G | |
| XM_006716715.2:c.543+839A>G | XP_006716778.1:n.543+839A>G | |
| XM_011517673.1:c.309+839A>G | XP_011515975.1:n.309+839A>G | |
| XM_006716715.3:c.543+839A>G | XP_006716778.1:n.543+839A>G | |
| XM_011517673.3:c.309+839A>G | XP_011515975.1:n.309+839A>G | |
| XM_017014176.1:c.309+839A>G | XP_016869665.1:n.309+839A>G | |
| NM_005772.5:c.867+839A>G MANE Select | NP_005763.3:n.867+839A>G | |
| NM_001286699.2:c.393+839A>G | NP_001273628.1:n.393+839A>G | |
| NM_001286700.2:c.393+839A>G | NP_001273629.1:n.393+839A>G | |
| NM_001286701.2:c.309+839A>G | NP_001273630.1:n.309+839A>G |