gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010251 (AFR)
Genomes Max Group AF
0.00009566 (AFR)
Exomes Max Group AF
0.00005849 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070956G>C , CM000664.2:g.38070956G>C | GRCh38 |
| NC_000002.11:g.38298099G>C , CM000664.1:g.38298099G>C | GRCh37 |
| NC_000002.10:g.38151603G>C | NCBI36 |
| NG_008386.2:g.10146C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1398C>G | ENSP00000478839.2:p.Gly466= | |
| ENST00000610745.5:c.1398C>G MANE Select | ENSP00000478561.1:p.Gly466= | |
| ENST00000494864.1:c.285C>G | ENSP00000479876.1:p.Gly95= | |
| ENST00000610745.4:c.1398C>G | ENSP00000478561.1:p.Gly466= | |
| ENST00000614273.1:c.1398C>G | ENSP00000483678.1:p.Gly466= | |
| NM_000104.3:c.1398C>G | NP_000095.2:p.Gly466= | |
| NM_000104.4:c.1398C>G MANE Select | NP_000095.2:p.Gly466= |