Revel Score:
ENST00000388996 (MANE Select)
0.320
ENST00000521134
0.320
ENST00000519445
0.320
ENST00000542679
0.320
ENST00000423790
0.320
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002067 (AMR)
Genomes Max Group AF
0.0000887 (AMR)
Exomes Max Group AF
0.00020649 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132129390G>A , CM000670.2:g.132129390G>A | GRCh38 |
| NC_000008.10:g.133141637G>A , CM000670.1:g.133141637G>A | GRCh37 |
| NC_000008.9:g.133210819G>A | NCBI36 |
| NG_008854.2:g.356368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.2491C>T MANE Select | ENSP00000373648.3:p.Arg831Trp | |
| ENST00000521134.6:c.2131C>T | ENSP00000429799.1:p.Arg711Trp | |
| ENST00000639496.1:c.*1115C>T | ENSP00000491165.1:n.*1115C>T | |
| ENST00000388996.8:c.2491C>T | ENSP00000373648.3:p.Arg831Trp | |
| ENST00000519445.5:c.2455C>T | ENSP00000428790.1:p.Arg819Trp | |
| ENST00000519589.1:n.3219C>T | ||
| ENST00000521134.5:c.2131C>T | ENSP00000429799.1:p.Arg711Trp | |
| ENST00000621976.1:c.2128C>T | ENSP00000482510.1:p.Arg710Trp | |
| NM_001204824.1:c.2131C>T | NP_001191753.1:p.Arg711Trp | |
| NM_004519.3:c.2491C>T | NP_004510.1:p.Arg831Trp | |
| XM_005250914.2:c.1246C>T | XP_005250971.1:p.Arg416Trp | |
| XM_006716555.2:c.1783C>T | XP_006716618.1:p.Arg595Trp | |
| XM_011517026.1:c.2131C>T | XP_011515328.1:p.Arg711Trp | |
| XM_005250914.3:c.1246C>T | XP_005250971.1:p.Arg416Trp | |
| XM_006716555.3:c.1783C>T | XP_006716618.1:p.Arg595Trp | |
| XM_011517026.2:c.2131C>T | XP_011515328.1:p.Arg711Trp | |
| XM_017013400.1:c.2269C>T | XP_016868889.1:p.Arg757Trp | |
| NM_004519.4:c.2491C>T MANE Select | NP_004510.1:p.Arg831Trp | |
| NM_001204824.2:c.2131C>T | NP_001191753.1:p.Arg711Trp |