Revel Score:
ENST00000455697
0.871
ENST00000445766
0.871
ENST00000548696
0.871
ENST00000345127 (MANE Select)
0.871
ENST00000552240
0.871
ENST00000552108
0.871
ENST00000551050
0.871
ENST00000547113
0.871
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.42469523C>T , CM000674.2:g.42469523C>T | GRCh38 |
| NC_000012.11:g.42863325C>T , CM000674.1:g.42863325C>T | GRCh37 |
| NC_000012.10:g.41149592C>T | NCBI36 |
| NG_012965.1:g.125248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345127.9:c.311G>A MANE Select | ENSP00000345064.3:p.Arg104Gln | |
| ENST00000445766.7:c.311G>A | ENSP00000398947.2:p.Arg104Gln | |
| ENST00000455697.6:c.311G>A | ENSP00000401060.1:p.Arg104Gln | |
| ENST00000548696.6:c.311G>A | ENSP00000448359.1:p.Arg104Gln | |
| ENST00000551050.6:c.311G>A | ENSP00000446970.1:p.Arg104Gln | |
| ENST00000552108.6:c.311G>A | ENSP00000447870.2:p.Arg104Gln | |
| ENST00000552240.6:c.311G>A | ENSP00000449819.1:p.Arg104Gln | |
| ENST00000639566.1:c.311G>A | ENSP00000492332.1:p.Arg104Gln | |
| ENST00000639589.1:c.311G>A | ENSP00000491051.1:p.Arg104Gln | |
| ENST00000639958.1:c.311G>A | ENSP00000492644.1:p.Arg104Gln | |
| ENST00000640055.1:c.311G>A | ENSP00000492763.1:p.Arg104Gln | |
| ENST00000640132.1:c.311G>A | ENSP00000491228.1:p.Arg104Gln | |
| ENST00000640646.1:c.311G>A | ENSP00000492483.1:p.Arg104Gln | |
| ENST00000640801.1:c.311G>A | ENSP00000491473.1:p.Arg104Gln | |
| ENST00000640840.1:n.138G>A | ||
| ENST00000345127.7:c.311G>A | ENSP00000345064.3:p.Arg104Gln | |
| ENST00000445766.6:c.311G>A | ENSP00000398947.2:p.Arg104Gln | |
| ENST00000455697.5:c.311G>A | ENSP00000401060.1:p.Arg104Gln | |
| ENST00000547113.1:c.311G>A | ENSP00000446699.1:p.Arg104Gln | |
| ENST00000548696.5:c.311G>A | ENSP00000448359.1:p.Arg104Gln | |
| ENST00000551050.5:c.311G>A | ENSP00000446970.1:p.Arg104Gln | |
| ENST00000552108.5:c.311G>A | ENSP00000447870.1:p.Arg104Gln | |
| ENST00000552240.5:c.311G>A | ENSP00000449819.1:p.Arg104Gln | |
| NM_001144881.1:c.311G>A | NP_001138353.1:p.Arg104Gln | |
| NM_001144882.1:c.311G>A | NP_001138354.1:p.Arg104Gln | |
| NM_001144883.1:c.311G>A | NP_001138355.1:p.Arg104Gln | |
| NM_153026.2:c.311G>A | NP_694571.2:p.Arg104Gln | |
| XM_011537946.1:c.311G>A | XP_011536248.1:p.Arg104Gln | |
| XM_011537947.1:c.311G>A | XP_011536249.1:p.Arg104Gln | |
| XM_011537947.2:c.311G>A | XP_011536249.1:p.Arg104Gln | |
| XM_017018838.1:c.311G>A | XP_016874327.1:p.Arg104Gln | |
| XM_017018839.1:c.311G>A | XP_016874328.1:p.Arg104Gln | |
| XM_017018840.1:c.311G>A | XP_016874329.1:p.Arg104Gln | |
| NM_153026.3:c.311G>A MANE Select | NP_694571.2:p.Arg104Gln | |
| NM_001144881.2:c.311G>A | NP_001138353.1:p.Arg104Gln | |
| NM_001144882.2:c.311G>A | NP_001138354.1:p.Arg104Gln | |
| NM_001144883.2:c.311G>A | NP_001138355.1:p.Arg104Gln |