ClinVar Variation:
COSMIC:
COSM1444469
COSM4782833
COSM4782834
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00334585 (AMR)
Genomes Max Group AF
0.00388737 (AMR)
Exomes Max Group AF
0.00295793 (AMR)
Revel Score:
ENST00000373113 (MANE Select)
0.335
ENST00000338469
0.335
ENST00000373122
0.335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161514C>T , CM000668.2:g.41161514C>T | GRCh38 |
| NC_000006.11:g.41129252C>T , CM000668.1:g.41129252C>T | GRCh37 |
| NC_000006.10:g.41237230C>T | NCBI36 |
| NG_011561.1:g.6671G>A , LRG_631:g.6671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.140G>A MANE Select | ENSP00000362205.3:p.Arg47His | |
| ENST00000338469.3:c.140G>A | ENSP00000342651.4:p.Arg47His | |
| ENST00000373113.7:c.140G>A | ENSP00000362205.3:p.Arg47His | |
| ENST00000373122.8:c.140G>A | ENSP00000362214.4:p.Arg47His | |
| NM_001271821.1:c.140G>A | NP_001258750.1:p.Arg47His | |
| NM_018965.3:c.140G>A , LRG_631t1:c.140G>A | NP_061838.1:p.Arg47His | |
| XM_006715116.2:c.130+1529G>A | XP_006715179.1:n.130+1529G>A | |
| XR_926795.1:n.222+5951C>T | ||
| XR_926796.1:n.214+5951C>T | ||
| XR_926797.1:n.188+5951C>T | ||
| XR_926795.2:n.517+5951C>T | ||
| XR_926797.2:n.232+5951C>T | ||
| NM_001271821.2:c.140G>A | NP_001258750.1:p.Arg47His | |
| NM_018965.4:c.140G>A MANE Select | NP_061838.1:p.Arg47His |