Revel Score:
ENST00000316623 (MANE Select)
0.272
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427723T>C , CM000677.2:g.48427723T>C | GRCh38 |
| NC_000015.9:g.48719920T>C , CM000677.1:g.48719920T>C | GRCh37 |
| NC_000015.8:g.46507212T>C | NCBI36 |
| NG_008805.2:g.223066A>G , LRG_778:g.223066A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7110A>G | ENSP00000453958.2:p.Arg2370= | |
| ENST00000674301.2:c.*561A>G | ENSP00000501333.2:n.*561A>G | |
| ENST00000682170.1:n.1229A>G | ||
| ENST00000682767.1:n.345A>G | ||
| ENST00000316623.10:c.7048A>G MANE Select | ENSP00000325527.5:p.Ile2350Val | |
| ENST00000674301.1:c.2214A>G | ENSP00000501333.1:n.2214A>G | |
| ENST00000316623.9:c.7048A>G | ENSP00000325527.5:p.Ile2350Val | |
| ENST00000559133.5:c.2417A>G | ||
| NM_000138.4:c.7048A>G , LRG_778t1:c.7048A>G | NP_000129.3:p.Ile2350Val | |
| NM_000138.5:c.7048A>G MANE Select | NP_000129.3:p.Ile2350Val |