COSMIC:
COSM3756907 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44191991 (NFE)
Genomes Max Group AF
0.43902132 (NFE)
Exomes Max Group AF
0.44187112 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43553075T>C , CM000681.2:g.43553075T>C | GRCh38 |
| NC_000019.9:g.44057227T>C , CM000681.1:g.44057227T>C | GRCh37 |
| NC_000019.8:g.48749067T>C | NCBI36 |
| NG_033799.1:g.27504A>G , LRG_784:g.27504A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.618A>G MANE Select | ENSP00000262887.5:p.Pro206= | |
| ENST00000262887.9:c.618A>G | ENSP00000262887.4:p.Pro206= | |
| ENST00000543982.5:c.525A>G | ENSP00000443671.1:p.Pro175= | |
| ENST00000594107.1:c.507A>G | ENSP00000471159.1:p.Pro169= | |
| ENST00000595789.5:n.666A>G | ||
| ENST00000597811.5:c.387-232A>G | ||
| ENST00000598165.5:c.639A>G | ENSP00000470045.1:p.Pro213= | |
| ENST00000598422.1:n.298A>G | ||
| ENST00000599693.5:c.544A>G | ||
| NM_006297.2:c.618A>G , LRG_784t1:c.618A>G | NP_006288.2:p.Pro206= | |
| NM_006297.3:c.618A>G MANE Select | NP_006288.2:p.Pro206= |