gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44259555T>C , CM000679.2:g.44259555T>C | GRCh38 |
| NC_000017.10:g.42336923T>C , CM000679.1:g.42336923T>C | GRCh37 |
| NC_000017.9:g.39692449T>C | NCBI36 |
| NG_007498.1:g.13580A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.636A>G MANE Select | ENSP00000262418.6:p.Ser212= | |
| ENST00000262418.10:c.636A>G | ENSP00000262418.6:p.Ser212= | |
| ENST00000399246.3:c.636A>G | ENSP00000382190.3:p.Ser212= | |
| ENST00000497360.5:n.775A>G | ||
| NM_000342.3:c.636A>G | NP_000333.1:p.Ser212= | |
| XM_005257593.3:c.441A>G | XP_005257650.1:p.Ser147= | |
| XM_011525129.1:c.636A>G | XP_011523431.1:p.Ser212= | |
| XM_011525130.1:c.636A>G | XP_011523432.1:p.Ser212= | |
| XM_011525131.1:c.636A>G | XP_011523433.1:p.Ser212= | |
| XM_005257593.5:c.441A>G | XP_005257650.1:p.Ser147= | |
| XM_011525129.2:c.636A>G | XP_011523431.1:p.Ser212= | |
| NM_000342.4:c.636A>G MANE Select | NP_000333.1:p.Ser212= |