COSMIC:
COSM5426109 (not active)
Revel Score:
ENST00000256906 (MANE Select)
0.018
ENST00000426880
0.018
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.125831 (MID)
Genomes Max Group AF
0.10793866 (AMR)
Exomes Max Group AF
0.13025776 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477006A>G , CM000680.2:g.24477006A>G | GRCh38 |
| NC_000018.9:g.22056970A>G , CM000680.1:g.22056970A>G | GRCh37 |
| NC_000018.8:g.20310968A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.617A>G MANE Select | ENSP00000256906.4:p.His206Arg | |
| ENST00000256906.4:c.617A>G | ENSP00000256906.4:p.His206Arg | |
| ENST00000426880.2:c.353A>G | ENSP00000402526.2:p.His118Arg | |
| NM_001143828.1:c.353A>G | NP_001137300.1:p.His118Arg | |
| NM_001160166.1:c.*249A>G | NP_001153638.1:n.*249A>G | |
| NM_021624.3:c.617A>G | NP_067637.2:p.His206Arg | |
| XM_011526133.1:c.357+8055A>G | XP_011524435.1:n.357+8055A>G | |
| NM_021624.4:c.617A>G MANE Select | NP_067637.2:p.His206Arg | |
| NM_001143828.2:c.353A>G | NP_001137300.1:p.His118Arg | |
| NM_001160166.2:c.*249A>G | NP_001153638.1:n.*249A>G |