gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00075653 (AFR)
Genomes Max Group AF
0.00074693 (AFR)
Exomes Max Group AF
0.00061953 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225718G>A , CM000673.2:g.5225718G>A | GRCh38 |
| NC_000011.9:g.5246948G>A , CM000673.1:g.5246948G>A | GRCh37 |
| NC_000011.8:g.5203524G>A | NCBI36 |
| NG_000007.3:g.71898C>T | |
| NG_059281.1:g.6354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.324C>T | ENSP00000494175.1:p.Gly108= | |
| ENST00000335295.4:c.324C>T MANE Select | ENSP00000333994.3:p.Gly108= | |
| ENST00000475226.1:n.256C>T | ||
| ENST00000633227.1:c.*140C>T | ENSP00000488004.1:n.*140C>T | |
| NM_000518.4:c.324C>T | NP_000509.1:p.Gly108= | |
| NM_000518.5:c.324C>T MANE Select | NP_000509.1:p.Gly108= |