Revel Score:
ENST00000330883
0.738
ENST00000392968
0.738
ENST00000262186 (MANE Select)
0.738
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011214 (NFE)
Genomes Max Group AF
0.0002067 (NFE)
Exomes Max Group AF
0.00010111 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947623G>A , CM000669.2:g.150947623G>A | GRCh38 |
| NC_000007.13:g.150644711G>A , CM000669.1:g.150644711G>A | GRCh37 |
| NC_000007.12:g.150275644G>A | NCBI36 |
| NG_008916.1:g.35304C>T , LRG_288:g.35304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3781C>T | ||
| ENST00000262186.10:c.2948C>T MANE Select | ENSP00000262186.5:p.Thr983Ile | |
| ENST00000330883.9:c.1928C>T | ENSP00000328531.4:p.Thr643Ile | |
| ENST00000262186.9:c.2948C>T | ENSP00000262186.5:p.Thr983Ile | |
| ENST00000330883.8:c.1928C>T | ENSP00000328531.4:p.Thr643Ile | |
| NM_000238.3:c.2948C>T , LRG_288t1:c.2948C>T | NP_000229.1:p.Thr983Ile | |
| NM_172057.2:c.1928C>T , LRG_288t3:c.1928C>T | NP_742054.1:p.Thr643Ile | |
| XM_011516185.1:c.2648C>T | XP_011514487.1:p.Thr883Ile | |
| XM_011516186.1:c.*28C>T | XP_011514488.1:n.*28C>T | |
| XM_011516185.2:c.2648C>T | XP_011514487.1:p.Thr883Ile | |
| XM_011516186.3:c.*28C>T | XP_011514488.1:n.*28C>T | |
| XM_017012195.1:c.2798C>T | XP_016867684.1:p.Thr933Ile | |
| XM_017012196.1:c.2771C>T | XP_016867685.1:p.Thr924Ile | |
| NM_000238.4:c.2948C>T MANE Select | NP_000229.1:p.Thr983Ile | |
| NM_172057.3:c.1928C>T | NP_742054.1:p.Thr643Ile |