Revel Score:
ENST00000264381 (MANE Select)
0.366
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001107 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001012 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829775A>G , CM000665.2:g.165829775A>G | GRCh38 |
| NC_000003.11:g.165547563A>G , CM000665.1:g.165547563A>G | GRCh37 |
| NC_000003.10:g.167030257A>G | NCBI36 |
| NG_009031.1:g.12691T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1259T>C MANE Select | ENSP00000264381.3:p.Val420Ala | |
| ENST00000264381.7:c.1259T>C | ENSP00000264381.3:p.Val420Ala | |
| ENST00000479451.5:c.107+7539T>C | ENSP00000418325.1:n.107+7539T>C | |
| ENST00000482958.1:c.1259T>C | ENSP00000419804.1:p.Val420Ala | |
| ENST00000488954.1:c.107+7539T>C | ENSP00000418504.1:n.107+7539T>C | |
| ENST00000497011.5:c.1259T>C | ENSP00000419505.1:p.Val420Ala | |
| NM_000055.2:c.1259T>C | NP_000046.1:p.Val420Ala | |
| XM_005247685.1:c.1382T>C | XP_005247742.1:p.Val461Ala | |
| NM_000055.3:c.1259T>C | NP_000046.1:p.Val420Ala | |
| NR_137635.1:n.159+7539T>C | ||
| NR_137636.1:n.1426T>C | ||
| NM_000055.4:c.1259T>C MANE Select | NP_000046.1:p.Val420Ala | |
| NR_137635.2:n.110+7539T>C | ||
| NR_137636.2:n.1377T>C |