Revel Score:
ENST00000389658 (MANE Select)
0.234
ENST00000344342
0.234
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4448765 (AFR)
Genomes Max Group AF
0.43752849 (AFR)
Exomes Max Group AF
0.45028357 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.6958610T>C , CM000680.2:g.6958610T>C | GRCh38 |
| NC_000018.9:g.6958609T>C , CM000680.1:g.6958609T>C | GRCh37 |
| NC_000018.8:g.6948609T>C | NCBI36 |
| NG_034251.1:g.164205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.7831A>G MANE Select | ENSP00000374309.3:p.Thr2611Ala | |
| ENST00000638611.1:c.190A>G | ENSP00000491821.1:p.Thr64Ala | |
| ENST00000389658.3:c.7831A>G | ENSP00000374309.3:p.Thr2611Ala | |
| ENST00000488064.5:n.1238A>G | ||
| ENST00000488089.1:n.1408A>G | ||
| ENST00000579014.5:n.8846A>G | ||
| NM_005559.3:c.7831A>G | NP_005550.2:p.Thr2611Ala | |
| XM_011525655.1:c.7831A>G | XP_011523957.1:p.Thr2611Ala | |
| XM_011525656.1:c.6259A>G | XP_011523958.1:p.Thr2087Ala | |
| XM_011525655.2:c.7831A>G | XP_011523957.1:p.Thr2611Ala | |
| XM_011525656.2:c.6259A>G | XP_011523958.1:p.Thr2087Ala | |
| NM_005559.4:c.7831A>G MANE Select | NP_005550.2:p.Thr2611Ala |