Revel Score:
ENST00000247933
0.824
ENST00000453894
0.824
ENST00000514224 (MANE Select)
0.824
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004824 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00004922 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002459C>G , CM000666.2:g.1002459C>G | GRCh38 |
| NC_000004.11:g.996247C>G , CM000666.1:g.996247C>G | GRCh37 |
| NC_000004.10:g.986247C>G | NCBI36 |
| NG_008103.1:g.20463C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1163C>G | ENSP00000247933.4:p.Thr388Arg | |
| ENST00000514224.2:c.1163C>G MANE Select | ENSP00000425081.2:p.Thr388Arg | |
| ENST00000652070.1:n.1219C>G | ||
| ENST00000247933.8:c.1163C>G | ENSP00000247933.4:p.Thr388Arg | |
| ENST00000514224.1:c.767C>G | ENSP00000425081.1:p.Thr256Arg | |
| ENST00000514698.5:n.1270C>G | ||
| NM_000203.4:c.1163C>G | NP_000194.2:p.Thr388Arg | |
| NR_110313.1:n.1251C>G | ||
| XM_006713882.2:c.767C>G | XP_006713945.1:p.Thr256Arg | |
| XM_011513459.1:c.1229C>G | XP_011511761.1:p.Thr410Arg | |
| XM_011513460.1:c.1022C>G | XP_011511762.1:p.Thr341Arg | |
| XM_011513461.1:c.956C>G | XP_011511763.1:p.Thr319Arg | |
| XM_011513462.1:c.875C>G | XP_011511764.1:p.Thr292Arg | |
| XM_011513463.1:c.875C>G | XP_011511765.1:p.Thr292Arg | |
| XR_924947.1:n.1232C>G | ||
| NM_000203.5:c.1163C>G MANE Select | NP_000194.2:p.Thr388Arg | |
| NM_001363576.1:c.767C>G | NP_001350505.1:p.Thr256Arg | |
| XM_011513461.2:c.956C>G | XP_011511763.1:p.Thr319Arg | |
| XM_017008163.1:c.203C>G | XP_016863652.1:p.Thr68Arg |