Revel Score:
ENST00000293502 (MANE Select)
0.555
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005034 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00004993 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56929515A>G , CM000674.2:g.56929515A>G | GRCh38 |
| NC_000012.11:g.57323299A>G , CM000674.1:g.57323299A>G | GRCh37 |
| NC_000012.10:g.55609566A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293502.2:c.599T>C MANE Select | ENSP00000293502.1:p.Ile200Thr | |
| ENST00000293502.1:c.599T>C | ENSP00000293502.1:p.Ile200Thr | |
| NM_148897.2:c.599T>C | NP_683695.1:p.Ile200Thr | |
| NM_148897.3:c.599T>C MANE Select | NP_683695.1:p.Ile200Thr |