Revel Score:
ENST00000389048 (MANE Select)
0.562
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041628 (AMR)
Genomes Max Group AF
0.00119118 (AMR)
Exomes Max Group AF
0.00008862 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29214036G>A , CM000664.2:g.29214036G>A | GRCh38 |
| NC_000002.11:g.29436902G>A , CM000664.1:g.29436902G>A | GRCh37 |
| NC_000002.10:g.29290406G>A | NCBI36 |
| NG_009445.1:g.712531C>T , LRG_488:g.712531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3691C>T MANE Select | ENSP00000373700.3:p.Arg1231Trp | |
| ENST00000431873.6:c.918C>T | ||
| ENST00000638605.1:n.568C>T | ||
| ENST00000642122.1:c.487C>T | ENSP00000493203.1:p.Arg163Trp | |
| ENST00000389048.7:c.3691C>T | ENSP00000373700.3:p.Arg1231Trp | |
| ENST00000431873.5:c.571C>T | ENSP00000414027.2:p.Arg191Trp | |
| ENST00000618119.4:c.2560C>T | ENSP00000482733.1:p.Arg854Trp | |
| NM_004304.4:c.3691C>T | NP_004295.2:p.Arg1231Trp | |
| NM_001353765.1:c.487C>T | NP_001340694.1:p.Arg163Trp | |
| XM_024452778.1:c.844C>T | XP_024308546.1:p.Arg282Trp | |
| XM_024452779.1:c.487C>T | XP_024308547.1:p.Arg163Trp | |
| NM_004304.5:c.3691C>T MANE Select | NP_004295.2:p.Arg1231Trp | |
| NM_001353765.2:c.487C>T | NP_001340694.1:p.Arg163Trp |