Revel Score:
ENST00000392968
0.608
ENST00000262186 (MANE Select)
0.608
ENST00000430723
0.608
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00117285 (AMR)
Genomes Max Group AF
0.00012857 (AMR)
Exomes Max Group AF
0.00147225 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959622G>A , CM000669.2:g.150959622G>A | GRCh38 |
| NC_000007.13:g.150656710G>A , CM000669.1:g.150656710G>A | GRCh37 |
| NC_000007.12:g.150287643G>A | NCBI36 |
| NG_008916.1:g.23305C>T , LRG_288:g.23305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1255C>T | ||
| ENST00000262186.10:c.422C>T MANE Select | ENSP00000262186.5:p.Pro141Leu | |
| ENST00000262186.9:c.422C>T | ENSP00000262186.5:p.Pro141Leu | |
| ENST00000430723.4:c.234+11C>T | ENSP00000387657.4:n.234+11C>T | |
| ENST00000532957.5:n.645C>T | ||
| NM_000238.3:c.422C>T , LRG_288t1:c.422C>T | NP_000229.1:p.Pro141Leu | |
| NM_172056.2:c.422C>T , LRG_288t2:c.422C>T | NP_742053.1:p.Pro141Leu | |
| XM_011516185.1:c.122C>T | XP_011514487.1:p.Pro41Leu | |
| XM_011516186.1:c.422C>T | XP_011514488.1:p.Pro141Leu | |
| XM_011516185.2:c.122C>T | XP_011514487.1:p.Pro41Leu | |
| XM_011516186.3:c.422C>T | XP_011514488.1:p.Pro141Leu | |
| XM_017012195.1:c.272C>T | XP_016867684.1:p.Pro91Leu | |
| XM_017012196.1:c.245C>T | XP_016867685.1:p.Pro82Leu | |
| NM_000238.4:c.422C>T MANE Select | NP_000229.1:p.Pro141Leu |