Revel Score:
ENST00000509775
0.068
ENST00000423366
0.068
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006475 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00006609 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33124488C>T , CM000665.2:g.33124488C>T | GRCh38 |
| NC_000003.11:g.33165980C>T , CM000665.1:g.33165980C>T | GRCh37 |
| NC_000003.10:g.33140984C>T | NCBI36 |
| NG_008122.1:g.15531C>T , LRG_4:g.15531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.702C>T MANE Select | ENSP00000323696.5:p.Pro234= | |
| ENST00000320954.10:c.702C>T | ENSP00000323696.5:p.Pro234= | |
| ENST00000449224.1:c.702C>T | ENSP00000409997.1:p.Pro234= | |
| ENST00000485310.1:n.296C>T | ||
| NM_006371.4:c.702C>T , LRG_4t1:c.702C>T | NP_006362.1:p.Pro234= | |
| NM_006371.5:c.702C>T MANE Select | NP_006362.1:p.Pro234= | |
| NM_001393363.1:c.702C>T | NP_001380292.1:p.Pro234= | |
| NM_001393364.1:c.702C>T | NP_001380293.1:p.Pro234= | |
| NM_001393365.1:c.552C>T | NP_001380294.1:p.Pro184= |