gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7996233 (EAS)
Genomes Max Group AF
0.77073213 (EAS)
Exomes Max Group AF
0.80119513 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717922C>G , CM000671.2:g.2717922C>G | GRCh38 |
| NC_000009.11:g.2717922C>G , CM000671.1:g.2717922C>G | GRCh37 |
| NC_000009.10:g.2707922C>G | NCBI36 |
| NG_012181.1:g.5397C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.183C>G MANE Select | ENSP00000371514.3:p.Gly61= | |
| ENST00000382082.3:c.183C>G | ENSP00000371514.3:p.Gly61= | |
| NM_133497.3:c.183C>G | NP_598004.1:p.Gly61= | |
| XR_929202.1:n.684C>G | ||
| XR_929203.1:n.684C>G | ||
| NM_133497.4:c.183C>G MANE Select | NP_598004.1:p.Gly61= |