Revel Score:
ENST00000336411
0.595
ENST00000415003
0.595
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003342 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003258 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99772622T>C , CM000669.2:g.99772622T>C | GRCh38 |
| NC_000007.13:g.99370245T>C , CM000669.1:g.99370245T>C | GRCh37 |
| NC_000007.12:g.99208181T>C | NCBI36 |
| NG_008421.1:g.16564A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.286A>G | ENSP00000337915.3:p.Lys96Glu | |
| ENST00000651514.1:c.286A>G MANE Select | ENSP00000498939.1:p.Lys96Glu | |
| ENST00000651783.1:c.58-4115A>G | ENSP00000498924.1:n.58-4115A>G | |
| ENST00000652018.1:c.139A>G | ENSP00000498733.1:p.Lys47Glu | |
| ENST00000336411.6:c.286A>G | ENSP00000337915.2:p.Lys96Glu | |
| ENST00000354593.6:c.72-4120A>G | ENSP00000346607.2:n.72-4120A>G | |
| ENST00000415003.1:c.325A>G | ENSP00000397208.1:p.Lys109Glu | |
| ENST00000480043.1:n.183A>G | ||
| NM_001202855.2:c.286A>G | NP_001189784.1:p.Lys96Glu | |
| NM_017460.5:c.286A>G | NP_059488.2:p.Lys96Glu | |
| XM_011515841.1:c.286A>G | XP_011514143.1:p.Lys96Glu | |
| XM_011515842.1:c.286A>G | XP_011514144.1:p.Lys96Glu | |
| NM_017460.6:c.286A>G MANE Select | NP_059488.2:p.Lys96Glu | |
| NM_001202855.3:c.286A>G | NP_001189784.1:p.Lys96Glu |