gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35975846 (AFR)
Genomes Max Group AF
0.3590187 (AFR)
Exomes Max Group AF
0.35419422 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63126422T>C , CM000680.2:g.63126422T>C | GRCh38 |
| NC_000018.9:g.60793655T>C , CM000680.1:g.60793655T>C | GRCh37 |
| NC_000018.8:g.58944635T>C | NCBI36 |
| NG_009361.1:g.197959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.*2203A>G MANE Select | ENSP00000329623.3:n.*2203A>G | |
| ENST00000677635.1:n.2487A>G | ||
| ENST00000678134.1:c.3127A>G | ENSP00000503628.1:n.3127A>G | |
| ENST00000678301.1:c.*2203A>G | ENSP00000504546.1:n.*2203A>G | |
| ENST00000678349.1:c.3475A>G | ENSP00000504190.1:n.3475A>G | |
| ENST00000398117.1:c.*2203A>G | ENSP00000381185.1:n.*2203A>G | |
| NM_000633.2:c.*2203A>G | NP_000624.2:n.*2203A>G | |
| NM_000633.3:c.*2203A>G MANE Select | NP_000624.2:n.*2203A>G |