COSMIC:
COSM1562502 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82810691 (AFR)
Genomes Max Group AF
0.82333094 (AFR)
Exomes Max Group AF
0.82898731 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63150429A>G , CM000674.2:g.63150429A>G | GRCh38 |
| NC_000012.11:g.63544209A>G , CM000674.1:g.63544209A>G | GRCh37 |
| NC_000012.10:g.61830476A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299178.4:c.408T>C MANE Select | ENSP00000299178.3:p.Phe136= | |
| ENST00000299178.3:c.408T>C | ENSP00000299178.2:p.Phe136= | |
| NM_000706.4:c.408T>C | NP_000697.1:p.Phe136= | |
| XM_005269002.3:c.417T>C | XP_005269059.1:p.Phe139= | |
| NM_000706.5:c.408T>C MANE Select | NP_000697.1:p.Phe136= |