ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011823 (NFE)
Genomes Max Group AF
0.00012402 (NFE)
Exomes Max Group AF
0.00011375 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118257268A>G , CM000673.2:g.118257268A>G | GRCh38 |
| NC_000011.9:g.118127983A>G , CM000673.1:g.118127983A>G | GRCh37 |
| NC_000011.8:g.117633193A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278937.7:c.630T>C MANE Select | ENSP00000278937.2:p.Tyr210= | |
| ENST00000278937.6:c.630T>C | ENSP00000278937.2:p.Tyr210= | |
| ENST00000438295.2:c.630T>C | ENSP00000408362.2:p.Tyr210= | |
| ENST00000528554.1:n.393T>C | ||
| ENST00000534175.6:n.678T>C | ||
| NM_005797.3:c.630T>C | NP_005788.1:p.Tyr210= | |
| NM_144765.2:c.630T>C | NP_658911.1:p.Tyr210= | |
| NM_005797.4:c.630T>C MANE Select | NP_005788.1:p.Tyr210= | |
| NM_144765.3:c.630T>C | NP_658911.1:p.Tyr210= |