Revel Score:
ENST00000355832 (MANE Select)
0.186
ENST00000374129
0.186
ENST00000542458
0.186
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00144213 (NFE)
Genomes Max Group AF
0.00068973 (NFE)
Exomes Max Group AF
0.00147813 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470569T>C , CM000672.2:g.49470569T>C | GRCh38 |
| NC_000010.10:g.50678615T>C , CM000672.1:g.50678615T>C | GRCh37 |
| NC_000010.9:g.50348621T>C | NCBI36 |
| NG_009442.1:g.73533A>G , LRG_465:g.73533A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3391A>G MANE Select | ENSP00000348089.5:p.Asn1131Asp | |
| ENST00000679552.1:n.462A>G | ||
| ENST00000679871.1:n.537A>G | ||
| ENST00000679974.1:n.440A>G | ||
| ENST00000681632.1:n.4794A>G | ||
| ENST00000681659.1:c.3232A>G | ENSP00000505631.1:p.Asn1078Asp | |
| ENST00000355832.9:c.3391A>G | ENSP00000348089.5:p.Asn1131Asp | |
| ENST00000623073.3:c.*1687A>G | ENSP00000485650.1:n.*1687A>G | |
| ENST00000623115.3:c.1501A>G | ENSP00000485321.1:p.Asn501Asp | |
| ENST00000624341.3:c.1223A>G | ||
| NM_000124.3:c.3391A>G | NP_000115.1:p.Asn1131Asp | |
| XR_945953.1:n.243-996T>C | ||
| NM_001346440.1:c.3391A>G | NP_001333369.1:p.Asn1131Asp | |
| NM_000124.4:c.3391A>G MANE Select | NP_000115.1:p.Asn1131Asp | |
| NM_001346440.2:c.3391A>G | NP_001333369.1:p.Asn1131Asp |