Revel Score:
ENST00000225927 (MANE Select)
0.910
ENST00000377405
0.910
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003503 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003373 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543699C>T , CM000679.2:g.42543699C>T | GRCh38 |
| NC_000017.10:g.40695717C>T , CM000679.1:g.40695717C>T | GRCh37 |
| NC_000017.9:g.37949243C>T | NCBI36 |
| NG_011552.1:g.12767C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1693C>T MANE Select | ENSP00000225927.1:p.Arg565Trp | |
| ENST00000225927.6:c.1693C>T | ENSP00000225927.1:p.Arg565Trp | |
| ENST00000591587.1:c.1031C>T | ENSP00000467836.1:n.1031C>T | |
| NM_000263.3:c.1693C>T | NP_000254.2:p.Arg565Trp | |
| XM_006721920.2:c.862C>T | XP_006721983.1:p.Arg288Trp | |
| XM_011524840.1:c.694C>T | XP_011523142.1:p.Arg232Trp | |
| XM_017024687.1:c.862C>T | XP_016880176.1:p.Arg288Trp | |
| XM_024450771.1:c.1750C>T | XP_024306539.1:p.Arg584Trp | |
| XM_024450772.1:c.694C>T | XP_024306540.1:p.Arg232Trp | |
| NM_000263.4:c.1693C>T MANE Select | NP_000254.2:p.Arg565Trp |