Revel Score:
ENST00000375994
0.050
ENST00000375985 (MANE Select)
0.050
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31821560A>G , CM000682.2:g.31821560A>G | GRCh38 |
| NC_000020.10:g.30409363A>G , CM000682.1:g.30409363A>G | GRCh37 |
| NC_000020.9:g.29873024A>G | NCBI36 |
| NG_012847.1:g.7186A>G , LRG_392:g.7186A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.595A>G MANE Select | ENSP00000365152.4:p.Ile199Val | |
| ENST00000375985.4:c.595A>G | ENSP00000365152.4:p.Ile199Val | |
| ENST00000375994.6:c.595A>G | ENSP00000365162.2:p.Ile199Val | |
| NM_033118.3:c.595A>G , LRG_392t1:c.595A>G | NP_149109.1:p.Ile199Val | |
| XR_244155.1:n.760A>G | ||
| NM_033118.4:c.595A>G MANE Select | NP_149109.1:p.Ile199Val |