Revel Score:
ENST00000409134 (MANE Select)
0.881
ENST00000553117
0.881
ENST00000447989
0.881
ENST00000437170
0.881
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
Exomes Max Group AF
0.00001627 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126568304T>C , CM000667.2:g.126568304T>C | GRCh38 |
| NC_000005.9:g.125903996T>C , CM000667.1:g.125903996T>C | GRCh37 |
| NC_000005.8:g.125931895T>C | NCBI36 |
| NG_008600.2:g.32087A>G | |
| NG_008600.3:g.32087A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.826A>G MANE Select | ENSP00000387123.3:p.Thr276Ala | |
| ENST00000413020.6:c.826A>G | ENSP00000487936.1:p.Thr276Ala | |
| ENST00000458249.6:c.*735A>G | ENSP00000403929.1:n.*735A>G | |
| ENST00000503281.6:c.415A>G | ||
| ENST00000509459.6:c.374A>G | ||
| ENST00000511266.6:n.1548A>G | ||
| ENST00000635851.1:c.824A>G | ||
| ENST00000636062.1:n.721A>G | ||
| ENST00000636225.1:c.*635A>G | ENSP00000490797.1:n.*635A>G | |
| ENST00000636286.1:n.544A>G | ||
| ENST00000636743.1:c.706A>G | ENSP00000489725.1:p.Thr236Ala | |
| ENST00000636808.1:c.*635A>G | ENSP00000490833.1:n.*635A>G | |
| ENST00000636872.1:c.986A>G | ENSP00000490919.1:n.986A>G | |
| ENST00000636879.1:c.871A>G | ENSP00000490811.1:p.Thr291Ala | |
| ENST00000636886.1:c.625A>G | ENSP00000490371.1:p.Thr209Ala | |
| ENST00000636892.1:n.2834A>G | ||
| ENST00000637206.1:c.826A>G | ENSP00000489895.1:p.Thr276Ala | |
| ENST00000637272.1:c.826A>G | ENSP00000489686.1:p.Thr276Ala | |
| ENST00000637292.1:c.426+2478A>G | ||
| ENST00000637782.1:c.826A>G | ENSP00000490024.1:p.Thr276Ala | |
| ENST00000637964.1:c.772A>G | ENSP00000490291.1:p.Thr258Ala | |
| ENST00000638008.1:c.*715+2478A>G | ENSP00000490400.1:n.*715+2478A>G | |
| ENST00000409134.7:c.826A>G | ENSP00000387123.3:p.Thr276Ala | |
| ENST00000413020.5:c.826A>G | ENSP00000487936.1:p.Thr276Ala | |
| ENST00000433026.5:n.353A>G | ||
| ENST00000447989.6:c.907A>G | ENSP00000414132.2:p.Thr303Ala | |
| ENST00000458249.5:c.986A>G | ENSP00000403929.1:n.986A>G | |
| ENST00000503281.5:c.415A>G | ||
| ENST00000509459.5:c.374A>G | ||
| ENST00000553117.5:c.826A>G | ENSP00000448593.1:p.Thr276Ala | |
| NM_001182.4:c.826A>G | NP_001173.2:p.Thr276Ala | |
| NM_001201377.1:c.742A>G | NP_001188306.1:p.Thr248Ala | |
| NM_001202404.1:c.907A>G | NP_001189333.1:p.Thr303Ala | |
| XM_011543417.1:c.421A>G | XP_011541719.1:p.Thr141Ala | |
| XM_011543417.2:c.421A>G | XP_011541719.1:p.Thr141Ala | |
| NM_001182.5:c.826A>G MANE Select | NP_001173.2:p.Thr276Ala | |
| NM_001201377.2:c.742A>G | NP_001188306.1:p.Thr248Ala | |
| NM_001202404.2:c.826A>G | NP_001189333.2:p.Thr276Ala |