Revel Score:
ENST00000392968
0.744
ENST00000262186 (MANE Select)
0.744
ENST00000430723
0.744
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00094368 (SAS)
Genomes Max Group AF
0.00043078 (NFE)
Exomes Max Group AF
0.00094278 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959602G>A , CM000669.2:g.150959602G>A | GRCh38 |
| NC_000007.13:g.150656690G>A , CM000669.1:g.150656690G>A | GRCh37 |
| NC_000007.12:g.150287623G>A | NCBI36 |
| NG_008916.1:g.23325C>T , LRG_288:g.23325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1275C>T | ||
| ENST00000262186.10:c.442C>T MANE Select | ENSP00000262186.5:p.Arg148Trp | |
| ENST00000262186.9:c.442C>T | ENSP00000262186.5:p.Arg148Trp | |
| ENST00000430723.4:c.234+31C>T | ENSP00000387657.4:n.234+31C>T | |
| ENST00000532957.5:n.665C>T | ||
| NM_000238.3:c.442C>T , LRG_288t1:c.442C>T | NP_000229.1:p.Arg148Trp | |
| NM_172056.2:c.442C>T , LRG_288t2:c.442C>T | NP_742053.1:p.Arg148Trp | |
| XM_011516185.1:c.142C>T | XP_011514487.1:p.Arg48Trp | |
| XM_011516186.1:c.442C>T | XP_011514488.1:p.Arg148Trp | |
| XM_011516185.2:c.142C>T | XP_011514487.1:p.Arg48Trp | |
| XM_011516186.3:c.442C>T | XP_011514488.1:p.Arg148Trp | |
| XM_017012195.1:c.292C>T | XP_016867684.1:p.Arg98Trp | |
| XM_017012196.1:c.265C>T | XP_016867685.1:p.Arg89Trp | |
| NM_000238.4:c.442C>T MANE Select | NP_000229.1:p.Arg148Trp |