COSMIC:
COSM1457540 (not active)
Revel Score:
ENST00000220676 (MANE Select)
0.079
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40195619 (EAS)
Genomes Max Group AF
0.4061146 (EAS)
Exomes Max Group AF
0.39985505 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54626497G>A , CM000670.2:g.54626497G>A | GRCh38 |
| NC_000008.10:g.55539057G>A , CM000670.1:g.55539057G>A | GRCh37 |
| NC_000008.9:g.55701610G>A | NCBI36 |
| NG_009840.1:g.15431G>A | |
| NG_009840.2:g.15431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.2615G>A MANE Select | ENSP00000220676.1:p.Arg872His | |
| ENST00000636932.1:c.787+4209G>A | ENSP00000489857.1:n.787+4209G>A | |
| ENST00000637698.1:c.787+4209G>A | ENSP00000490104.1:n.787+4209G>A | |
| ENST00000220676.1:c.2615G>A | ENSP00000220676.1:p.Arg872His | |
| NM_006269.1:c.2615G>A | NP_006260.1:p.Arg872His | |
| XM_017013721.1:c.2636G>A | XP_016869210.1:p.Arg879His | |
| XM_017013722.1:c.2615G>A | XP_016869211.1:p.Arg872His | |
| NM_001375654.1:c.787+4209G>A | NP_001362583.1:n.787+4209G>A | |
| NM_006269.2:c.2615G>A MANE Select | NP_006260.1:p.Arg872His |