COSMIC:
COSM6351598 (not active)
COSM6351599 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41365926 (EAS)
Genomes Max Group AF
0.4115467 (EAS)
Exomes Max Group AF
0.41216101 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126036209A>G , CM000672.2:g.126036209A>G | GRCh38 |
| NC_000010.10:g.127724778A>G , CM000672.1:g.127724778A>G | GRCh37 |
| NC_000010.9:g.127714768A>G | NCBI36 |
| NG_029050.1:g.357350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448723.2:c.2466T>C MANE Select | ENSP00000391268.2:p.Ala822= | |
| ENST00000368679.8:c.2475T>C | ENSP00000357668.4:p.Ala825= | |
| NM_001288973.1:c.2466T>C | NP_001275902.1:p.Ala822= | |
| NM_003474.5:c.2475T>C | NP_003465.3:p.Ala825= | |
| XM_017016705.1:c.2007T>C | XP_016872194.1:p.Ala669= | |
| XM_017016706.1:c.1308T>C | XP_016872195.1:p.Ala436= | |
| XM_024448210.1:c.1137T>C | XP_024303978.1:p.Ala379= | |
| NM_001288973.2:c.2466T>C MANE Select | NP_001275902.1:p.Ala822= | |
| NM_003474.6:c.2475T>C | NP_003465.3:p.Ala825= |