COSMIC:
COSM1336022 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60477121 (AFR)
Genomes Max Group AF
0.60107712 (AFR)
Exomes Max Group AF
0.60513674 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167924521G>A , CM000663.2:g.167924521G>A | GRCh38 |
| NC_000001.10:g.167893759G>A , CM000663.1:g.167893759G>A | GRCh37 |
| NC_000001.9:g.166160383G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271373.9:c.126C>T MANE Select | ENSP00000271373.4:p.Phe42= | |
| ENST00000271373.8:c.126C>T | ENSP00000271373.4:p.Phe42= | |
| ENST00000367846.8:c.126C>T | ENSP00000356820.4:p.Phe42= | |
| ENST00000458574.1:c.126C>T | ENSP00000392874.1:p.Phe42= | |
| NM_001143674.3:c.126C>T | NP_001137146.1:p.Phe42= | |
| NM_015415.3:c.126C>T | NP_056230.1:p.Phe42= | |
| NR_026550.2:n.486C>T | ||
| XM_006711266.2:c.126C>T | XP_006711329.1:p.Phe42= | |
| XM_006711266.3:c.126C>T | XP_006711329.1:p.Phe42= | |
| NM_001143674.4:c.126C>T MANE Select | NP_001137146.1:p.Phe42= | |
| NR_026550.3:n.281C>T |