Revel Score:
ENST00000509775
0.030
ENST00000423366
0.030
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00316552 (NFE)
Genomes Max Group AF
0.00274434 (NFE)
Exomes Max Group AF
0.00317222 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33124518C>T , CM000665.2:g.33124518C>T | GRCh38 |
| NC_000003.11:g.33166010C>T , CM000665.1:g.33166010C>T | GRCh37 |
| NC_000003.10:g.33141014C>T | NCBI36 |
| NG_008122.1:g.15561C>T , LRG_4:g.15561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.732C>T MANE Select | ENSP00000323696.5:p.Leu244= | |
| ENST00000320954.10:c.732C>T | ENSP00000323696.5:p.Leu244= | |
| ENST00000449224.1:c.732C>T | ENSP00000409997.1:p.Leu244= | |
| ENST00000485310.1:n.326C>T | ||
| NM_006371.4:c.732C>T , LRG_4t1:c.732C>T | NP_006362.1:p.Leu244= | |
| NM_006371.5:c.732C>T MANE Select | NP_006362.1:p.Leu244= | |
| NM_001393363.1:c.732C>T | NP_001380292.1:p.Leu244= | |
| NM_001393364.1:c.732C>T | NP_001380293.1:p.Leu244= | |
| NM_001393365.1:c.582C>T | NP_001380294.1:p.Leu194= |