Revel Score:
ENST00000330883
0.925
ENST00000392968
0.925
ENST00000262186 (MANE Select)
0.925
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948866T>A , CM000669.2:g.150948866T>A | GRCh38 |
| NC_000007.13:g.150645954T>A , CM000669.1:g.150645954T>A | GRCh37 |
| NC_000007.12:g.150276887T>A | NCBI36 |
| NG_008916.1:g.34061A>T , LRG_288:g.34061A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3415A>T | ||
| ENST00000262186.10:c.2582A>T MANE Select | ENSP00000262186.5:p.Asn861Ile | |
| ENST00000330883.9:c.1562A>T | ENSP00000328531.4:p.Asn521Ile | |
| ENST00000262186.9:c.2582A>T | ENSP00000262186.5:p.Asn861Ile | |
| ENST00000330883.8:c.1562A>T | ENSP00000328531.4:p.Asn521Ile | |
| NM_000238.3:c.2582A>T , LRG_288t1:c.2582A>T | NP_000229.1:p.Asn861Ile | |
| NM_172057.2:c.1562A>T , LRG_288t3:c.1562A>T | NP_742054.1:p.Asn521Ile | |
| XM_011516185.1:c.2282A>T | XP_011514487.1:p.Asn761Ile | |
| XM_011516186.1:c.2582A>T | XP_011514488.1:p.Asn861Ile | |
| XM_011516185.2:c.2282A>T | XP_011514487.1:p.Asn761Ile | |
| XM_011516186.3:c.2582A>T | XP_011514488.1:p.Asn861Ile | |
| XM_017012195.1:c.2432A>T | XP_016867684.1:p.Asn811Ile | |
| XM_017012196.1:c.2405A>T | XP_016867685.1:p.Asn802Ile | |
| NM_000238.4:c.2582A>T MANE Select | NP_000229.1:p.Asn861Ile | |
| NM_172057.3:c.1562A>T | NP_742054.1:p.Asn521Ile |