Revel Score:
ENST00000336411
0.041
ENST00000415003
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00212067 (EAS)
Genomes Max Group AF
0.00224285 (EAS)
Exomes Max Group AF
0.00198173 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99770202T>C , CM000669.2:g.99770202T>C | GRCh38 |
| NC_000007.13:g.99367825T>C , CM000669.1:g.99367825T>C | GRCh37 |
| NC_000007.12:g.99205761T>C | NCBI36 |
| NG_008421.1:g.18984A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.352A>G | ENSP00000337915.3:p.Ile118Val | |
| ENST00000651514.1:c.352A>G MANE Select | ENSP00000498939.1:p.Ile118Val | |
| ENST00000651783.1:c.58-1695A>G | ENSP00000498924.1:n.58-1695A>G | |
| ENST00000652018.1:c.205A>G | ENSP00000498733.1:p.Ile69Val | |
| ENST00000336411.6:c.352A>G | ENSP00000337915.2:p.Ile118Val | |
| ENST00000354593.6:c.72-1700A>G | ENSP00000346607.2:n.72-1700A>G | |
| ENST00000415003.1:c.391A>G | ENSP00000397208.1:p.Ile131Val | |
| ENST00000480043.1:n.249A>G | ||
| NM_001202855.2:c.352A>G | NP_001189784.1:p.Ile118Val | |
| NM_017460.5:c.352A>G | NP_059488.2:p.Ile118Val | |
| XM_011515841.1:c.352A>G | XP_011514143.1:p.Ile118Val | |
| XM_011515842.1:c.352A>G | XP_011514144.1:p.Ile118Val | |
| NM_017460.6:c.352A>G MANE Select | NP_059488.2:p.Ile118Val | |
| NM_001202855.3:c.352A>G | NP_001189784.1:p.Ile118Val |