Revel Score:
ENST00000263321 (MANE Select)
0.745
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010159 (NFE)
Genomes Max Group AF
0.00005842 (NFE)
Exomes Max Group AF
0.00010107 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89177954A>G , CM000673.2:g.89177954A>G | GRCh38 |
| NC_000011.9:g.88911122A>G , CM000673.1:g.88911122A>G | GRCh37 |
| NC_000011.8:g.88550770A>G | NCBI36 |
| NG_008748.1:g.5083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1A>G MANE Select | ENSP00000263321.4:p.Met1Val | |
| ENST00000263321.5:c.1A>G | ENSP00000263321.4:p.Met1Val | |
| ENST00000526139.1:n.62A>G | ||
| NM_000372.4:c.1A>G | NP_000363.1:p.Met1Val | |
| XM_011542970.1:c.1A>G | XP_011541272.1:p.Met1Val | |
| XM_011542970.2:c.1A>G | XP_011541272.1:p.Met1Val | |
| XR_001748321.1:n.2718-64421T>C | ||
| XR_001748322.1:n.2733-64421T>C | ||
| NM_000372.5:c.1A>G MANE Select | NP_000363.1:p.Met1Val |