Revel Score:
ENST00000455537 (MANE Select)
0.114
ENST00000286452
0.114
ENST00000547989
0.114
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0022336 (NFE)
Genomes Max Group AF
0.001508 (NFE)
Exomes Max Group AF
0.0022638 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57581498A>G , CM000674.2:g.57581498A>G | GRCh38 |
| NC_000012.11:g.57975281A>G , CM000674.1:g.57975281A>G | GRCh37 |
| NC_000012.10:g.56261548A>G | NCBI36 |
| NG_008155.1:g.36435A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2839A>G MANE Select | ENSP00000408979.2:p.Thr947Ala | |
| ENST00000674619.1:c.2860A>G | ENSP00000502270.1:p.Thr954Ala | |
| ENST00000674776.1:c.347A>G | ENSP00000502434.1:n.347A>G | |
| ENST00000675634.1:c.334A>G | ENSP00000502231.1:p.Thr112Ala | |
| ENST00000675737.1:n.243A>G | ||
| ENST00000675882.1:n.2061A>G | ||
| ENST00000675929.1:n.1397A>G | ||
| ENST00000676457.1:c.2734A>G | ENSP00000501588.1:p.Thr912Ala | |
| ENST00000286452.5:c.2572A>G | ENSP00000286452.5:p.Thr858Ala | |
| ENST00000455537.6:c.2839A>G | ENSP00000408979.2:p.Thr947Ala | |
| NM_004984.2:c.2839A>G | NP_004975.2:p.Thr947Ala | |
| NM_001354705.1:c.2572A>G | NP_001341634.1:p.Thr858Ala | |
| NM_004984.3:c.2839A>G | NP_004975.2:p.Thr947Ala | |
| XR_002957324.1:n.3072A>G | ||
| NM_004984.4:c.2839A>G MANE Select | NP_004975.2:p.Thr947Ala | |
| NM_001354705.2:c.2572A>G | NP_001341634.1:p.Thr858Ala |