COSMIC:
COSM4131613 (not active)
Revel Score:
ENST00000170564 (MANE Select)
0.011
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83111989 (EAS)
Genomes Max Group AF
0.81242891 (EAS)
Exomes Max Group AF
0.83132261 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33114394A>G , CM000681.2:g.33114394A>G | GRCh38 |
| NC_000019.9:g.33605300A>G , CM000681.1:g.33605300A>G | GRCh37 |
| NC_000019.8:g.38297140A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000170564.7:c.2171A>G MANE Select | ENSP00000170564.1:p.His724Arg | |
| ENST00000170564.6:c.2171A>G | ENSP00000170564.1:p.His724Arg | |
| ENST00000592262.1:n.1107A>G | ||
| NM_018025.2:c.2171A>G | NP_060495.2:p.His724Arg | |
| XM_011527056.1:c.2171A>G | XP_011525358.1:p.His724Arg | |
| NR_135270.1:n.2485A>G | ||
| NM_018025.3:c.2171A>G MANE Select | NP_060495.2:p.His724Arg | |
| NR_135270.2:n.2184A>G |