Revel Score:
ENST00000320580 (MANE Select)
0.252
ENST00000533756
0.252
ENST00000527380
0.252
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211209A>G , CM000673.2:g.66211209A>G | GRCh38 |
| NC_000011.9:g.65978680A>G , CM000673.1:g.65978680A>G | GRCh37 |
| NC_000011.8:g.65735256A>G | NCBI36 |
| NG_033900.1:g.145857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.610A>G MANE Select | ENSP00000316454.4:p.Thr204Ala | |
| ENST00000320580.8:c.610A>G | ENSP00000316454.4:p.Thr204Ala | |
| ENST00000527224.1:n.734A>G | ||
| ENST00000527380.1:c.316A>G | ENSP00000432639.1:p.Thr106Ala | |
| ENST00000533756.5:c.301A>G | ENSP00000437150.1:p.Thr101Ala | |
| NM_018026.3:c.610A>G | NP_060496.2:p.Thr204Ala | |
| XM_011545162.1:c.289A>G | XP_011543464.1:p.Thr97Ala | |
| XM_011545163.1:c.280A>G | XP_011543465.1:p.Thr94Ala | |
| XM_011545164.1:c.271A>G | XP_011543466.1:p.Thr91Ala | |
| XM_011545164.2:c.271A>G | XP_011543466.1:p.Thr91Ala | |
| XR_001747924.1:n.821A>G | ||
| NM_018026.4:c.610A>G MANE Select | NP_060496.2:p.Thr204Ala |