Revel Score:
ENST00000538474
0.474
ENST00000361134
0.474
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005805 (MID)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.00006099 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137236018C>T , CM000671.2:g.137236018C>T | GRCh38 |
| NC_000009.11:g.140130470C>T , CM000671.1:g.140130470C>T | GRCh37 |
| NC_000009.10:g.139250291C>T | NCBI36 |
| NG_017008.1:g.10262C>T | |
| NG_017008.2:g.10118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673835.1:c.1402C>T MANE Select | ENSP00000501114.1:p.Arg468Trp | |
| ENST00000361134.2:c.1402C>T | ENSP00000355353.2:p.Arg468Trp | |
| ENST00000538474.5:c.1402C>T | ENSP00000442397.1:p.Arg468Trp | |
| NM_001177316.1:c.1402C>T | NP_001170787.1:p.Arg468Trp | |
| NM_001177317.1:c.1402C>T | NP_001170788.1:p.Arg468Trp | |
| NM_080877.2:c.1402C>T | NP_543153.1:p.Arg468Trp | |
| XM_011518262.1:c.1785C>T | XP_011516564.1:p.Cys595= | |
| XM_017014291.1:c.1785C>T | XP_016869780.1:p.Cys595= | |
| XM_017014292.1:c.1402C>T | XP_016869781.1:p.Arg468Trp | |
| NM_001177316.2:c.1402C>T MANE Select | NP_001170787.2:p.Arg468Trp | |
| NM_001177317.2:c.1402C>T | NP_001170788.2:p.Arg468Trp | |
| NM_080877.3:c.1402C>T | NP_543153.2:p.Arg468Trp |