Revel Score:
ENST00000316623 (MANE Select)
0.241
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00221521 (SAS)
Genomes Max Group AF
0.00257593 (SAS)
Exomes Max Group AF
0.00213203 (SAS)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412610T>G , CM000677.2:g.48412610T>G | GRCh38 |
| NC_000015.9:g.48704807T>G , CM000677.1:g.48704807T>G | GRCh37 |
| NC_000015.8:g.46492099T>G | NCBI36 |
| NG_008805.2:g.238179A>C , LRG_778:g.238179A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*993A>C | ENSP00000453958.2:n.*993A>C | |
| ENST00000674301.2:c.*1698A>C | ENSP00000501333.2:n.*1698A>C | |
| ENST00000682158.1:n.1566A>C | ||
| ENST00000682170.1:n.2366A>C | ||
| ENST00000682767.1:n.1482A>C | ||
| ENST00000316623.10:c.8185A>C MANE Select | ENSP00000325527.5:p.Lys2729Gln | |
| ENST00000674301.1:c.3351A>C | ENSP00000501333.1:n.3351A>C | |
| ENST00000316623.9:c.8185A>C | ENSP00000325527.5:p.Lys2729Gln | |
| ENST00000559133.5:c.3554A>C | ||
| ENST00000561429.1:n.440A>C | ||
| NM_000138.4:c.8185A>C , LRG_778t1:c.8185A>C | NP_000129.3:p.Lys2729Gln | |
| NM_000138.5:c.8185A>C MANE Select | NP_000129.3:p.Lys2729Gln |