Revel Score:
ENST00000359999
0.133
ENST00000373631 (MANE Select)
0.133
ENST00000373629
0.133
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9983913 (NFE)
Genomes Max Group AF
0.99351392 (NFE)
Exomes Max Group AF
0.99834887 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123373436A>G , CM000671.2:g.123373436A>G | GRCh38 |
| NC_000009.11:g.126135715A>G , CM000671.1:g.126135715A>G | GRCh37 |
| NC_000009.10:g.125175536A>G | NCBI36 |
| NG_051311.1:g.24372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.2905A>G MANE Select | ENSP00000362734.3:p.Thr969Ala | |
| ENST00000359999.7:c.2905A>G | ENSP00000353092.3:p.Thr969Ala | |
| ENST00000373631.7:c.2905A>G | ENSP00000362734.3:p.Thr969Ala | |
| ENST00000460253.1:c.1909A>G | ENSP00000435279.1:p.Thr637Ala | |
| NM_173689.6:c.2905A>G | NP_775960.4:p.Thr969Ala | |
| NR_104603.1:n.2019A>G | ||
| XM_005251934.1:c.1909A>G | XP_005251991.1:p.Thr637Ala | |
| XM_011518556.1:c.2878A>G | XP_011516858.1:p.Thr960Ala | |
| XM_011518557.1:c.2710A>G | XP_011516859.1:p.Thr904Ala | |
| XM_011518558.1:c.2710A>G | XP_011516860.1:p.Thr904Ala | |
| XM_005251934.3:c.1909A>G | XP_005251991.1:p.Thr637Ala | |
| XM_011518556.3:c.2878A>G | XP_011516858.1:p.Thr960Ala | |
| XM_011518557.3:c.2710A>G | XP_011516859.1:p.Thr904Ala | |
| XM_011518558.3:c.2710A>G | XP_011516860.1:p.Thr904Ala | |
| NM_173689.7:c.2905A>G MANE Select | NP_775960.4:p.Thr969Ala | |
| NR_104603.2:n.2019A>G |