Revel Score:
ENST00000536101
0.236
ENST00000335473 (MANE Select)
0.236
ENST00000407587
0.236
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98545594 (NFE)
Genomes Max Group AF
0.97960691 (NFE)
Exomes Max Group AF
0.98547794 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25777694T>C , CM000684.2:g.25777694T>C | GRCh38 |
| NC_000022.10:g.26173661T>C , CM000684.1:g.26173661T>C | GRCh37 |
| NC_000022.9:g.24503661T>C | NCBI36 |
| NG_046772.1:g.40551T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335473.12:c.1981T>C MANE Select | ENSP00000334563.8:p.Trp661Arg | |
| ENST00000335473.11:c.1981T>C | ENSP00000334563.7:p.Trp661Arg | |
| ENST00000407587.6:c.1981T>C | ENSP00000386096.2:p.Trp661Arg | |
| ENST00000418374.6:n.552T>C | ||
| ENST00000536101.5:c.1981T>C | ENSP00000441229.1:p.Trp661Arg | |
| ENST00000539302.5:c.1981T>C | ENSP00000437587.1:p.Trp661Arg | |
| NM_032608.5:c.1981T>C | NP_115997.5:p.Trp661Arg | |
| XM_005261786.3:c.1981T>C | XP_005261843.1:p.Trp661Arg | |
| XM_011530458.1:c.2107T>C | XP_011528760.1:p.Trp703Arg | |
| XM_011530459.1:c.2107T>C | XP_011528761.1:p.Trp703Arg | |
| XM_011530460.1:c.2107T>C | XP_011528762.1:p.Trp703Arg | |
| XM_011530461.1:c.2107T>C | XP_011528763.1:p.Trp703Arg | |
| XM_011530462.1:c.2107T>C | XP_011528764.1:p.Trp703Arg | |
| XM_011530463.1:c.2107T>C | XP_011528765.1:p.Trp703Arg | |
| XM_011530464.1:c.2107T>C | XP_011528766.1:p.Trp703Arg | |
| XM_011530465.1:c.1624T>C | XP_011528767.1:p.Trp542Arg | |
| XM_011530466.1:c.2107T>C | XP_011528768.1:p.Trp703Arg | |
| XM_011530467.1:c.2107T>C | XP_011528769.1:p.Trp703Arg | |
| NM_001318245.1:c.1981T>C | NP_001305174.1:p.Trp661Arg | |
| NM_032608.6:c.1981T>C | NP_115997.5:p.Trp661Arg | |
| XM_011530458.2:c.2107T>C | XP_011528760.1:p.Trp703Arg | |
| XM_011530459.2:c.2107T>C | XP_011528761.1:p.Trp703Arg | |
| XM_011530460.2:c.2107T>C | XP_011528762.1:p.Trp703Arg | |
| XM_011530461.2:c.2107T>C | XP_011528763.1:p.Trp703Arg | |
| XM_011530464.2:c.2107T>C | XP_011528766.1:p.Trp703Arg | |
| XM_011530465.2:c.1624T>C | XP_011528767.1:p.Trp542Arg | |
| XM_011530466.2:c.2107T>C | XP_011528768.1:p.Trp703Arg | |
| XM_017029012.1:c.2107T>C | XP_016884501.1:p.Trp703Arg | |
| XM_017029013.1:c.2107T>C | XP_016884502.1:p.Trp703Arg | |
| XM_017029014.1:c.2107T>C | XP_016884503.1:p.Trp703Arg | |
| XM_017029015.1:c.1981T>C | XP_016884504.1:p.Trp661Arg | |
| XM_017029017.1:c.-413T>C | XP_016884506.1:n.-413T>C | |
| NM_001318245.2:c.1981T>C | NP_001305174.1:p.Trp661Arg | |
| NM_032608.7:c.1981T>C MANE Select | NP_115997.5:p.Trp661Arg |