ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010391 (EAS)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.00011816 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50921037C>T , CM000676.2:g.50921037C>T | GRCh38 |
| NC_000014.8:g.51387755C>T , CM000676.1:g.51387755C>T | GRCh37 |
| NC_000014.7:g.50457505C>T | NCBI36 |
| NG_012796.1:g.28494G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.691G>A MANE Select | ENSP00000216392.7:p.Val231Met | |
| ENST00000216392.7:c.691G>A | ENSP00000216392.7:p.Val231Met | |
| ENST00000532462.5:c.691G>A | ENSP00000431657.1:p.Val231Met | |
| ENST00000544180.6:c.589G>A | ENSP00000443787.1:p.Val197Met | |
| ENST00000553872.1:n.492G>A | ||
| NM_001163940.1:c.589G>A | NP_001157412.1:p.Val197Met | |
| NM_002863.4:c.691G>A | NP_002854.3:p.Val231Met | |
| NM_002863.5:c.691G>A MANE Select | NP_002854.3:p.Val231Met | |
| NM_001163940.2:c.589G>A | NP_001157412.1:p.Val197Met |