Revel Score:
ENST00000248846 (MANE Select)
0.027
ENST00000439308
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00114318 (AFR)
Genomes Max Group AF
0.00130428 (AFR)
Exomes Max Group AF
0.00081748 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221071A>C , CM000684.2:g.50221071A>C | GRCh38 |
| NC_000022.10:g.50659500A>C , CM000684.1:g.50659500A>C | GRCh37 |
| NC_000022.9:g.49001627A>C | NCBI36 |
| NG_032160.1:g.28901T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3288T>G MANE Select | ENSP00000248846.5:p.Asp1096Glu | |
| ENST00000248846.9:c.3288T>G | ENSP00000248846.5:p.Asp1096Glu | |
| ENST00000439308.6:c.3288T>G | ENSP00000397387.2:p.Asp1096Glu | |
| ENST00000491449.5:n.1595T>G | ||
| ENST00000498611.5:n.3617+204T>G | ||
| NM_020461.3:c.3288T>G | NP_065194.2:p.Asp1096Glu | |
| XR_938347.1:n.3853T>G | ||
| XR_938348.1:n.3049+957T>G | ||
| XR_001755343.2:n.3857T>G | ||
| XR_001755344.2:n.3857T>G | ||
| XR_002958720.1:n.3053+957T>G | ||
| XR_938347.2:n.3857T>G | ||
| NM_020461.4:c.3288T>G MANE Select | NP_065194.3:p.Asp1096Glu |