Revel Score:
ENST00000369244 (MANE Select)
0.250
ENST00000229971
0.250
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875673G>A , CM000668.2:g.98875673G>A | GRCh38 |
| NC_000006.11:g.99323549G>A , CM000668.1:g.99323549G>A | GRCh37 |
| NC_000006.10:g.99430270G>A | NCBI36 |
| NG_033903.1:g.77334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1444C>T MANE Select | ENSP00000358247.1:p.Arg482Trp | |
| ENST00000229971.2:c.1444C>T | ENSP00000229971.1:p.Arg482Trp | |
| ENST00000369244.6:c.1444C>T | ENSP00000358247.1:p.Arg482Trp | |
| NM_001278716.1:c.1444C>T | NP_001265645.1:p.Arg482Trp | |
| NM_012160.4:c.1444C>T | NP_036292.2:p.Arg482Trp | |
| NR_103836.1:n.1489C>T | ||
| XM_005266930.1:c.1372C>T | XP_005266987.1:p.Arg458Trp | |
| XM_005266930.3:c.1372C>T | XP_005266987.1:p.Arg458Trp | |
| XM_017010726.1:c.1444C>T | XP_016866215.1:p.Arg482Trp | |
| XM_017010727.2:c.1372C>T | XP_016866216.1:p.Arg458Trp | |
| XM_017010728.1:c.718C>T | XP_016866217.1:p.Arg240Trp | |
| NM_001278716.2:c.1444C>T MANE Select | NP_001265645.1:p.Arg482Trp | |
| NR_103836.2:n.1429C>T | ||
| NM_012160.5:c.1444C>T | NP_036292.2:p.Arg482Trp |