Revel Score:
ENST00000354593
0.102
ENST00000336411
0.102
ENST00000544160
0.102
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99768447T>C , CM000669.2:g.99768447T>C | GRCh38 |
| NC_000007.13:g.99366070T>C , CM000669.1:g.99366070T>C | GRCh37 |
| NC_000007.12:g.99204006T>C | NCBI36 |
| NG_008421.1:g.20739A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.577A>G | ENSP00000337915.3:p.Ile193Val | |
| ENST00000651514.1:c.577A>G MANE Select | ENSP00000498939.1:p.Ile193Val | |
| ENST00000651783.1:c.118A>G | ENSP00000498924.1:p.Ile40Val | |
| ENST00000652018.1:c.430A>G | ENSP00000498733.1:p.Ile144Val | |
| ENST00000336411.6:c.577A>G | ENSP00000337915.2:p.Ile193Val | |
| ENST00000354593.6:c.127A>G | ENSP00000346607.2:p.Ile43Val | |
| NM_001202855.2:c.577A>G | NP_001189784.1:p.Ile193Val | |
| NM_017460.5:c.577A>G | NP_059488.2:p.Ile193Val | |
| XM_011515841.1:c.577A>G | XP_011514143.1:p.Ile193Val | |
| XM_011515842.1:c.577A>G | XP_011514144.1:p.Ile193Val | |
| NM_017460.6:c.577A>G MANE Select | NP_059488.2:p.Ile193Val | |
| NM_001202855.3:c.577A>G | NP_001189784.1:p.Ile193Val |