COSMIC:
COSM3747109 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44166844 (NFE)
Genomes Max Group AF
0.43594868 (NFE)
Exomes Max Group AF
0.4417935 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.91712381A>G , CM000663.2:g.91712381A>G | GRCh38 |
| NC_000001.10:g.92177938A>G , CM000663.1:g.92177938A>G | GRCh37 |
| NC_000001.9:g.91950526A>G | NCBI36 |
| NG_027757.1:g.198622T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212355.9:c.2028T>C MANE Select | ENSP00000212355.4:p.Phe676= | |
| ENST00000212355.8:c.2028T>C | ENSP00000212355.4:p.Phe676= | |
| ENST00000370399.6:c.2025T>C | ENSP00000359426.2:p.Phe675= | |
| ENST00000465892.6:c.2025T>C | ENSP00000432638.1:p.Phe675= | |
| ENST00000525962.5:c.2028T>C | ENSP00000436127.1:p.Phe676= | |
| ENST00000532540.5:c.*1975T>C | ENSP00000434994.1:n.*1975T>C | |
| ENST00000533089.5:c.*1831-85T>C | ENSP00000433477.1:n.*1831-85T>C | |
| NM_001195683.1:c.2025T>C | NP_001182612.1:p.Phe675= | |
| NM_001195684.1:c.2025T>C | NP_001182613.1:p.Phe675= | |
| NM_003243.4:c.2028T>C | NP_003234.2:p.Phe676= | |
| NR_036634.1:n.2640T>C | ||
| XM_006710867.1:c.2028T>C | XP_006710930.1:p.Phe676= | |
| XM_006710868.1:c.2028T>C | XP_006710931.1:p.Phe676= | |
| XM_011542058.1:c.1362T>C | XP_011540360.1:p.Phe454= | |
| XM_006710867.2:c.2028T>C | XP_006710930.1:p.Phe676= | |
| NM_003243.5:c.2028T>C MANE Select | NP_003234.2:p.Phe676= | |
| NM_001195683.2:c.2025T>C | NP_001182612.1:p.Phe675= | |
| NR_036634.2:n.2512T>C |