Revel Score:
ENST00000355832 (MANE Select)
0.221
ENST00000374129
0.221
ENST00000542458
0.221
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00249268 (NFE)
Genomes Max Group AF
0.00250956 (NFE)
Exomes Max Group AF
0.00247439 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470838T>G , CM000672.2:g.49470838T>G | GRCh38 |
| NC_000010.10:g.50678884T>G , CM000672.1:g.50678884T>G | GRCh37 |
| NC_000010.9:g.50348890T>G | NCBI36 |
| NG_009442.1:g.73264A>C , LRG_465:g.73264A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3122A>C MANE Select | ENSP00000348089.5:p.Gln1041Pro | |
| ENST00000679552.1:n.193A>C | ||
| ENST00000679871.1:n.268A>C | ||
| ENST00000679974.1:n.171A>C | ||
| ENST00000681632.1:n.4525A>C | ||
| ENST00000681659.1:c.2963A>C | ENSP00000505631.1:p.Gln988Pro | |
| ENST00000355832.9:c.3122A>C | ENSP00000348089.5:p.Gln1041Pro | |
| ENST00000623073.3:c.*1418A>C | ENSP00000485650.1:n.*1418A>C | |
| ENST00000623115.3:c.1232A>C | ENSP00000485321.1:p.Gln411Pro | |
| ENST00000624341.3:c.954A>C | ||
| NM_000124.3:c.3122A>C | NP_000115.1:p.Gln1041Pro | |
| XR_945953.1:n.243-727T>G | ||
| NM_001346440.1:c.3122A>C | NP_001333369.1:p.Gln1041Pro | |
| NM_000124.4:c.3122A>C MANE Select | NP_000115.1:p.Gln1041Pro | |
| NM_001346440.2:c.3122A>C | NP_001333369.1:p.Gln1041Pro |