COSMIC:
COSM4573794 (not active)
COSM4573795 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00198862 (AFR)
Genomes Max Group AF
0.0019602 (AFR)
Exomes Max Group AF
0.00177768 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71828020G>C , CM000672.2:g.71828020G>C | GRCh38 |
| NC_000010.10:g.73587777G>C , CM000672.1:g.73587777G>C | GRCh37 |
| NC_000010.9:g.73257783G>C | NCBI36 |
| NG_009301.1:g.28306C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.714C>G MANE Select | ENSP00000378394.3:p.Ala238= | |
| ENST00000394934.4:c.714C>G | ENSP00000378392.2:p.Ala238= | |
| ENST00000394936.7:c.714C>G | ENSP00000378394.3:p.Ala238= | |
| ENST00000610929.3:c.270+3211C>G | ENSP00000480857.1:n.270+3211C>G | |
| ENST00000633965.1:c.115C>G | ||
| NM_001042465.1:c.714C>G | NP_001035930.1:p.Ala238= | |
| NM_001042466.1:c.714C>G | NP_001035931.1:p.Ala238= | |
| NM_002778.2:c.714C>G | NP_002769.1:p.Ala238= | |
| NM_001042465.2:c.714C>G | NP_001035930.1:p.Ala238= | |
| NM_001042466.2:c.714C>G | NP_001035931.1:p.Ala238= | |
| NM_002778.3:c.714C>G | NP_002769.1:p.Ala238= | |
| NM_002778.4:c.714C>G MANE Select | NP_002769.1:p.Ala238= | |
| NM_001042465.3:c.714C>G | NP_001035930.1:p.Ala238= | |
| NM_001042466.3:c.714C>G | NP_001035931.1:p.Ala238= |