COSMIC:
COSM5341213 (not active)
Revel Score:
ENST00000377833 (MANE Select)
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018733 (AFR)
Genomes Max Group AF
0.00018477 (AFR)
Exomes Max Group AF
0.00011834 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16904007C>T , CM000672.2:g.16904007C>T | GRCh38 |
| NC_000010.10:g.16946006C>T , CM000672.1:g.16946006C>T | GRCh37 |
| NC_000010.9:g.16986012C>T | NCBI36 |
| NG_008967.1:g.230811G>A , LRG_540:g.230811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.8021G>A MANE Select | ENSP00000367064.4:p.Arg2674His | |
| ENST00000648092.1:n.557G>A | ||
| ENST00000649933.1:n.383G>A | ||
| ENST00000377833.8:c.8021G>A | ENSP00000367064.4:p.Arg2674His | |
| NM_001081.3:c.8021G>A , LRG_540t1:c.8021G>A | NP_001072.2:p.Arg2674His | |
| XM_011519708.1:c.8021G>A | XP_011518010.1:p.Arg2674His | |
| XM_011519709.1:c.4007G>A | XP_011518011.1:p.Arg1336His | |
| XM_011519710.1:c.3983G>A | XP_011518012.1:p.Arg1328His | |
| XM_011519711.1:c.3863G>A | XP_011518013.1:p.Arg1288His | |
| XM_011519708.2:c.8021G>A | XP_011518010.1:p.Arg2674His | |
| XM_011519709.2:c.4007G>A | XP_011518011.1:p.Arg1336His | |
| XM_011519710.2:c.3983G>A | XP_011518012.1:p.Arg1328His | |
| XM_011519711.3:c.3863G>A | XP_011518013.1:p.Arg1288His | |
| NM_001081.4:c.8021G>A MANE Select | NP_001072.2:p.Arg2674His |