Revel Score:
ENST00000263321 (MANE Select)
0.921
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00471532 (NFE)
Genomes Max Group AF
0.00405138 (NFE)
Exomes Max Group AF
0.00473343 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284805C>T , CM000673.2:g.89284805C>T | GRCh38 |
| NC_000011.9:g.89017973C>T , CM000673.1:g.89017973C>T | GRCh37 |
| NC_000011.8:g.88657621C>T | NCBI36 |
| NG_008748.1:g.111934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1217C>T MANE Select | ENSP00000263321.4:p.Pro406Leu | |
| ENST00000263321.5:c.1217C>T | ENSP00000263321.4:p.Pro406Leu | |
| ENST00000528243.1:n.215C>T | ||
| NM_000372.4:c.1217C>T | NP_000363.1:p.Pro406Leu | |
| XM_011542970.1:c.1217C>T | XP_011541272.1:p.Pro406Leu | |
| XM_011542970.2:c.1217C>T | XP_011541272.1:p.Pro406Leu | |
| XR_001748321.1:n.2456+1229G>A | ||
| XR_001748322.1:n.2457+1229G>A | ||
| NM_000372.5:c.1217C>T MANE Select | NP_000363.1:p.Pro406Leu |