ClinVar Variation:
COSMIC:
COSM4002874
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75081585 (AFR)
Genomes Max Group AF
0.73772313 (AFR)
Exomes Max Group AF
0.76222668 (AFR)
Revel Score:
ENST00000511045
0.039
ENST00000457717
0.039
ENST00000265517 (MANE Select)
0.039
ENST00000538053
0.039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99594865C>G , CM000666.2:g.99594865C>G | GRCh38 |
| NC_000004.11:g.100516022C>G , CM000666.1:g.100516022C>G | GRCh37 |
| NC_000004.10:g.100735045C>G | NCBI36 |
| NG_011469.1:g.35783C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.891C>G MANE Select | ENSP00000265517.5:p.His297Gln | |
| ENST00000457717.6:c.891C>G | ENSP00000400821.1:p.His297Gln | |
| ENST00000511045.6:c.642C>G | ENSP00000427679.2:p.His214Gln | |
| ENST00000265517.9:c.891C>G | ENSP00000265517.5:p.His297Gln | |
| ENST00000457717.5:c.891C>G | ENSP00000400821.1:p.His297Gln | |
| ENST00000511045.5:c.972C>G | ENSP00000427679.1:p.His324Gln | |
| ENST00000619629.1:c.891C>G | ENSP00000482850.1:p.His297Gln | |
| NM_000253.3:c.891C>G | NP_000244.2:p.His297Gln | |
| NM_001300785.1:c.972C>G | NP_001287714.1:p.His324Gln | |
| NM_000253.4:c.891C>G | NP_000244.2:p.His297Gln | |
| NM_001300785.2:c.642C>G | NP_001287714.2:p.His214Gln | |
| NM_001386140.1:c.891C>G MANE Select | NP_001373069.1:p.His297Gln |