Revel Score:
ENST00000297268 (MANE Select)
0.592
ENST00000545487
0.592
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013364 (MID)
Genomes Max Group AF
0.00001172 (NFE)
Exomes Max Group AF
0.0001414 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94429230A>G , CM000669.2:g.94429230A>G | GRCh38 |
| NC_000007.13:g.94058542A>G , CM000669.1:g.94058542A>G | GRCh37 |
| NC_000007.12:g.93896478A>G | NCBI36 |
| NG_007405.1:g.39670A>G , LRG_2:g.39670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3754A>G MANE Select | ENSP00000297268.6:p.Thr1252Ala | |
| ENST00000297268.10:c.3754A>G | ENSP00000297268.6:p.Thr1252Ala | |
| ENST00000464916.1:n.802A>G | ||
| ENST00000481570.5:n.4535A>G | ||
| ENST00000620463.1:c.3748A>G | ENSP00000477719.1:p.Thr1250Ala | |
| NM_000089.3:c.3754A>G , LRG_2t1:c.3754A>G | NP_000080.2:p.Thr1252Ala | |
| NM_000089.4:c.3754A>G MANE Select | NP_000080.2:p.Thr1252Ala |