COSMIC:
COSM146712 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15711407 (NFE)
Genomes Max Group AF
0.15876456 (NFE)
Exomes Max Group AF
0.15687751 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186679065C>G , CM000663.2:g.186679065C>G | GRCh38 |
| NC_000001.10:g.186648197C>G , CM000663.1:g.186648197C>G | GRCh37 |
| NC_000001.9:g.184914820C>G | NCBI36 |
| NG_028206.2:g.6363G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.306G>C MANE Select | ENSP00000356438.5:p.Val102= | |
| ENST00000680451.1:c.306G>C | ENSP00000506242.1:p.Val102= | |
| ENST00000681605.1:c.306G>C | ENSP00000504900.1:p.Val102= | |
| ENST00000367468.9:c.306G>C | ENSP00000356438.5:p.Val102= | |
| ENST00000490885.6:n.439G>C | ||
| ENST00000559627.1:c.306G>C | ENSP00000454130.1:p.Val102= | |
| ENST00000559800.1:n.439G>C | ||
| NM_000963.3:c.306G>C | NP_000954.1:p.Val102= | |
| NM_000963.4:c.306G>C MANE Select | NP_000954.1:p.Val102= |