Revel Score:
ENST00000326873 (MANE Select)
0.083
ENST00000405031
0.083
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000957 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000856 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226553A>G , CM000681.2:g.1226553A>G | GRCh38 |
| NC_000019.9:g.1226552A>G , CM000681.1:g.1226552A>G | GRCh37 |
| NC_000019.8:g.1177552A>G | NCBI36 |
| NG_007460.2:g.42147A>G , LRG_319:g.42147A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2809A>G | ENSP00000490268.2:n.*2809A>G | |
| ENST00000585748.3:c.836A>G | ENSP00000477641.2:p.Lys279Arg | |
| ENST00000585851.2:c.1034A>G | ENSP00000467912.2:p.Lys345Arg | |
| ENST00000326873.12:c.1208A>G MANE Select | ENSP00000324856.6:p.Lys403Arg | |
| ENST00000326873.11:c.1208A>G | ENSP00000324856.6:p.Lys403Arg | |
| ENST00000585465.2:n.2941A>G | ||
| ENST00000586243.5:c.1208A>G | ENSP00000467240.2:p.Lys403Arg | |
| ENST00000589152.5:n.1906A>G | ||
| NM_000455.4:c.1208A>G , LRG_319t1:c.1208A>G | NP_000446.1:p.Lys403Arg | |
| XM_005259617.1:c.1203A>G | XP_005259674.1:p.Gln401= | |
| XM_011528209.1:c.981A>G | XP_011526511.1:p.Gln327= | |
| XM_005259617.3:c.1203A>G | XP_005259674.1:p.Gln401= | |
| XM_011528209.2:c.981A>G | XP_011526511.1:p.Gln327= | |
| XR_001753738.2:n.2014A>G | ||
| XR_001753740.2:n.1984A>G | ||
| NM_000455.5:c.1208A>G MANE Select | NP_000446.1:p.Lys403Arg |