ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00047119 (NFE)
Genomes Max Group AF
0.0003425 (NFE)
Exomes Max Group AF
0.00047214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16133249C>T , CM000663.2:g.16133249C>T | GRCh38 |
| NC_000001.10:g.16459744C>T , CM000663.1:g.16459744C>T | GRCh37 |
| NC_000001.9:g.16332331C>T | NCBI36 |
| NG_021396.1:g.27839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1984G>A MANE Select | ENSP00000351209.5:p.Gly662Ser | |
| ENST00000358432.7:c.1984G>A | ENSP00000351209.5:p.Gly662Ser | |
| ENST00000462805.1:n.202G>A | ||
| NM_004431.3:c.1984G>A | NP_004422.2:p.Gly662Ser | |
| NM_001329090.1:c.1822G>A | NP_001316019.1:p.Gly608Ser | |
| NM_004431.4:c.1984G>A | NP_004422.2:p.Gly662Ser | |
| NM_004431.5:c.1984G>A MANE Select | NP_004422.2:p.Gly662Ser | |
| NM_001329090.2:c.1822G>A | NP_001316019.1:p.Gly608Ser |