COSMIC:
COSM6050916 (not active)
Revel Score:
ENST00000392386 (MANE Select)
0.363
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002551 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Exomes Max Group AF
0.00000991 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18599720C>T , CM000681.2:g.18599720C>T | GRCh38 |
| NC_000019.9:g.18710530C>T , CM000681.1:g.18710530C>T | GRCh37 |
| NC_000019.8:g.18571530C>T | NCBI36 |
| NG_013370.1:g.12131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684169.1:c.242G>A | ENSP00000506849.1:p.Arg81His | |
| ENST00000392386.8:c.242G>A MANE Select | ENSP00000376188.2:p.Arg81His | |
| ENST00000392386.7:c.242G>A | ENSP00000376188.2:p.Arg81His | |
| ENST00000593286.1:n.494G>A | ||
| NM_004750.4:c.242G>A | NP_004741.1:p.Arg81His | |
| XM_011528422.1:c.176G>A | XP_011526724.1:p.Arg59His | |
| XM_011528423.1:c.242G>A | XP_011526725.1:p.Arg81His | |
| XM_011528424.1:c.176G>A | XP_011526726.1:p.Arg59His | |
| XM_011528422.2:c.176G>A | XP_011526724.1:p.Arg59His | |
| XM_011528423.2:c.242G>A | XP_011526725.1:p.Arg81His | |
| XM_011528424.3:c.176G>A | XP_011526726.1:p.Arg59His | |
| NM_004750.5:c.242G>A MANE Select | NP_004741.1:p.Arg81His |