Revel Score:
ENST00000316623 (MANE Select)
0.791
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005434 (AMR)
Genomes Max Group AF
0.00005285 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48425410G>C , CM000677.2:g.48425410G>C | GRCh38 |
| NC_000015.9:g.48717607G>C , CM000677.1:g.48717607G>C | GRCh37 |
| NC_000015.8:g.46504899G>C | NCBI36 |
| NG_008805.2:g.225379C>G , LRG_778:g.225379C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*220C>G | ENSP00000453958.2:n.*220C>G | |
| ENST00000674301.2:c.*925C>G | ENSP00000501333.2:n.*925C>G | |
| ENST00000682170.1:n.1593C>G | ||
| ENST00000682767.1:n.709C>G | ||
| ENST00000316623.10:c.7412C>G MANE Select | ENSP00000325527.5:p.Pro2471Arg | |
| ENST00000674301.1:c.2578C>G | ENSP00000501333.1:n.2578C>G | |
| ENST00000316623.9:c.7412C>G | ENSP00000325527.5:p.Pro2471Arg | |
| ENST00000559133.5:c.2781C>G | ||
| NM_000138.4:c.7412C>G , LRG_778t1:c.7412C>G | NP_000129.3:p.Pro2471Arg | |
| NM_000138.5:c.7412C>G MANE Select | NP_000129.3:p.Pro2471Arg |