Revel Score:
ENST00000392968
0.756
ENST00000262186 (MANE Select)
0.756
ENST00000430723
0.756
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008887 (NFE)
Genomes Max Group AF
0.00002262 (AMR)
Exomes Max Group AF
0.0000909 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958484C>T , CM000669.2:g.150958484C>T | GRCh38 |
| NC_000007.13:g.150655572C>T , CM000669.1:g.150655572C>T | GRCh37 |
| NC_000007.12:g.150286505C>T | NCBI36 |
| NG_008916.1:g.24443G>A , LRG_288:g.24443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1324G>A | ||
| ENST00000262186.10:c.491G>A MANE Select | ENSP00000262186.5:p.Arg164His | |
| ENST00000262186.9:c.491G>A | ENSP00000262186.5:p.Arg164His | |
| ENST00000430723.4:c.235-92G>A | ENSP00000387657.4:n.235-92G>A | |
| ENST00000532957.5:n.714G>A | ||
| NM_000238.3:c.491G>A , LRG_288t1:c.491G>A | NP_000229.1:p.Arg164His | |
| NM_172056.2:c.491G>A , LRG_288t2:c.491G>A | NP_742053.1:p.Arg164His | |
| XM_011516185.1:c.191G>A | XP_011514487.1:p.Arg64His | |
| XM_011516186.1:c.491G>A | XP_011514488.1:p.Arg164His | |
| XM_011516185.2:c.191G>A | XP_011514487.1:p.Arg64His | |
| XM_011516186.3:c.491G>A | XP_011514488.1:p.Arg164His | |
| XM_017012195.1:c.341G>A | XP_016867684.1:p.Arg114His | |
| XM_017012196.1:c.314G>A | XP_016867685.1:p.Arg105His | |
| NM_000238.4:c.491G>A MANE Select | NP_000229.1:p.Arg164His |