COSMIC:
COSM3757584 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30396074 (MID)
Genomes Max Group AF
0.23123658 (NFE)
Exomes Max Group AF
0.30210724 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832813G>A , CM000664.2:g.112832813G>A | GRCh38 |
| NC_000002.11:g.113590390G>A , CM000664.1:g.113590390G>A | GRCh37 |
| NC_000002.10:g.113306861G>A | NCBI36 |
| NG_008851.1:g.8967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.315C>T MANE Select | ENSP00000263341.2:p.Phe105= | |
| ENST00000263341.6:c.315C>T | ENSP00000263341.2:p.Phe105= | |
| ENST00000416750.1:c.315C>T | ENSP00000400854.1:p.Phe105= | |
| ENST00000418817.5:c.315C>T | ENSP00000407219.1:p.Phe105= | |
| ENST00000432018.5:c.315C>T | ENSP00000409680.1:p.Phe105= | |
| ENST00000487639.1:n.216C>T | ||
| ENST00000491056.5:n.1122C>T | ||
| NM_000576.2:c.315C>T | NP_000567.1:p.Phe105= | |
| XM_006712496.1:c.81C>T | XP_006712559.1:p.Phe27= | |
| XM_017003988.2:c.222C>T | XP_016859477.1:p.Phe74= | |
| NM_000576.3:c.315C>T MANE Select | NP_000567.1:p.Phe105= |