ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001165 (NFE)
Genomes Max Group AF
0.00004767 (NFE)
Exomes Max Group AF
0.00011811 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60842570C>G , CM000673.2:g.60842570C>G | GRCh38 |
| NC_000011.9:g.60610043C>G , CM000673.1:g.60610043C>G | GRCh37 |
| NC_000011.8:g.60366619C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227520.10:c.446C>G MANE Select | ENSP00000227520.5:p.Ala149Gly | |
| ENST00000227520.9:c.446C>G | ENSP00000227520.5:p.Ala149Gly | |
| ENST00000535217.1:c.261-131C>G | ||
| NM_024098.3:c.446C>G | NP_077003.1:p.Ala149Gly | |
| NM_024098.4:c.446C>G MANE Select | NP_077003.1:p.Ala149Gly |