Revel Score:
ENST00000336615 (MANE Select)
0.085
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00596551 (SAS)
Genomes Max Group AF
0.00291075 (SAS)
Exomes Max Group AF
0.00607313 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.824777C>T , CM000673.2:g.824777C>T | GRCh38 |
| NC_000011.9:g.824777C>T , CM000673.1:g.824777C>T | GRCh37 |
| NC_000011.8:g.814777C>T | NCBI36 |
| NG_023394.1:g.10877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336615.9:c.1430C>T MANE Select | ENSP00000337701.4:p.Pro477Leu | |
| ENST00000336615.8:c.1430C>T | ENSP00000337701.4:p.Pro477Leu | |
| ENST00000525250.5:n.2284C>T | ||
| ENST00000529255.1:n.860C>T | ||
| ENST00000617551.1:c.428C>T | ENSP00000481602.1:p.Pro143Leu | |
| NM_020376.3:c.1430C>T | NP_065109.1:p.Pro477Leu | |
| XM_006718265.2:c.1572C>T | XP_006718328.1:p.Pro524= | |
| XM_006718266.2:c.1572C>T | XP_006718329.1:p.Pro524= | |
| XM_006718265.3:c.1572C>T | XP_006718328.1:p.Pro524= | |
| XM_006718266.3:c.1572C>T | XP_006718329.1:p.Pro524= | |
| XM_017018028.1:c.1430C>T | XP_016873517.1:p.Pro477Leu | |
| XM_024448618.1:c.1658C>T | XP_024304386.1:p.Pro553Leu | |
| NM_020376.4:c.1430C>T MANE Select | NP_065109.1:p.Pro477Leu |