ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM5962267
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0046477 (SAS)
Genomes Max Group AF
0.00291655 (SAS)
Exomes Max Group AF
0.00467346 (SAS)
Revel Score:
ENST00000335295 (MANE Select)
0.575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225678C>G , CM000673.2:g.5225678C>G | GRCh38 |
| NC_000011.9:g.5246908C>G , CM000673.1:g.5246908C>G | GRCh37 |
| NC_000011.8:g.5203484C>G | NCBI36 |
| NG_000007.3:g.71938G>C | |
| NG_059281.1:g.6394G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.364G>C | ENSP00000494175.1:p.Glu122Gln | |
| ENST00000335295.4:c.364G>C MANE Select | ENSP00000333994.3:p.Glu122Gln | |
| ENST00000475226.1:n.296G>C | ||
| ENST00000633227.1:c.*180G>C | ENSP00000488004.1:n.*180G>C | |
| NM_000518.4:c.364G>C | NP_000509.1:p.Glu122Gln | |
| NM_000518.5:c.364G>C MANE Select | NP_000509.1:p.Glu122Gln |