Revel Score:
ENST00000348749 (MANE Select)
0.795
ENST00000261007
0.795
ENST00000409542
0.795
ENST00000409219
0.795
ENST00000409323
0.795
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174754233C>T , CM000664.2:g.174754233C>T | GRCh38 |
| NC_000002.11:g.175618961C>T , CM000664.1:g.175618961C>T | GRCh37 |
| NC_000002.10:g.175327207C>T | NCBI36 |
| NG_008172.1:g.15240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636168.2:c.37G>A | ENSP00000490338.2:p.Val13Met | |
| ENST00000672640.1:c.37G>A | ENSP00000500507.1:p.Val13Met | |
| ENST00000261007.9:c.601G>A | ENSP00000261007.5:p.Val201Met | |
| ENST00000348749.9:c.526G>A MANE Select | ENSP00000261008.5:p.Val176Met | |
| ENST00000409219.5:c.526G>A | ENSP00000386611.1:p.Val176Met | |
| ENST00000409323.1:c.526G>A | ENSP00000386684.1:p.Val176Met | |
| ENST00000409542.5:c.280G>A | ENSP00000387026.1:p.Val94Met | |
| ENST00000435083.5:c.*170G>A | ENSP00000395805.1:n.*170G>A | |
| NM_000079.3:c.526G>A | NP_000070.1:p.Val176Met | |
| NM_001039523.2:c.601G>A | NP_001034612.1:p.Val201Met | |
| XM_017003256.1:c.622G>A | XP_016858745.1:p.Val208Met | |
| XM_017003257.1:c.547G>A | XP_016858746.1:p.Val183Met | |
| NM_000079.4:c.526G>A MANE Select | NP_000070.1:p.Val176Met | |
| NM_001039523.3:c.601G>A | NP_001034612.1:p.Val201Met |