Revel Score:
ENST00000345988 (MANE Select)
0.032
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000058 (MID)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00006094 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4885515C>T , CM000678.2:g.4885515C>T | GRCh38 |
| NC_000016.9:g.4935516C>T , CM000678.1:g.4935516C>T | GRCh37 |
| NC_000016.8:g.4875517C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345988.7:c.3140G>A MANE Select | ENSP00000340510.2:p.Arg1047Gln | |
| ENST00000345988.6:c.3140G>A | ENSP00000340510.2:p.Arg1047Gln | |
| ENST00000590782.6:c.3134G>A | ENSP00000465640.1:p.Arg1045Gln | |
| ENST00000592772.1:c.1403G>A | ENSP00000467699.1:p.Arg468Gln | |
| NM_002705.4:c.3140G>A | NP_002696.3:p.Arg1047Gln | |
| XM_006720902.2:c.3179G>A | XP_006720965.1:p.Arg1060Gln | |
| XM_006720902.4:c.3179G>A | XP_006720965.1:p.Arg1060Gln | |
| XM_017023374.2:c.3227G>A | XP_016878863.1:p.Arg1076Gln | |
| XM_017023375.2:c.3188G>A | XP_016878864.1:p.Arg1063Gln | |
| NM_002705.5:c.3140G>A MANE Select | NP_002696.4:p.Arg1047Gln |