COSMIC:
COSM146708 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51111203 (AFR)
Genomes Max Group AF
0.5061764 (AFR)
Exomes Max Group AF
0.51325625 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183223169T>G , CM000663.2:g.183223169T>G | GRCh38 |
| NC_000001.10:g.183192304T>G , CM000663.1:g.183192304T>G | GRCh37 |
| NC_000001.9:g.181458927T>G | NCBI36 |
| NG_007079.2:g.41906T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.798T>G MANE Select | ENSP00000264144.4:p.Gly266= | |
| ENST00000264144.4:c.798T>G | ENSP00000264144.4:p.Gly266= | |
| ENST00000493293.5:c.798T>G | ENSP00000432063.1:p.Gly266= | |
| NM_005562.2:c.798T>G | NP_005553.2:p.Gly266= | |
| NM_018891.2:c.798T>G | NP_061486.2:p.Gly266= | |
| XM_017001273.2:c.798T>G | XP_016856762.1:p.Gly266= | |
| NM_005562.3:c.798T>G MANE Select | NP_005553.2:p.Gly266= | |
| NM_018891.3:c.798T>G | NP_061486.2:p.Gly266= |