gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00342217 (MID)
Genomes Max Group AF
0.00213725 (NFE)
Exomes Max Group AF
0.00359602 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13112572A>G , CM000672.2:g.13112572A>G | GRCh38 |
| NC_000010.10:g.13154572A>G , CM000672.1:g.13154572A>G | GRCh37 |
| NC_000010.9:g.13194578A>G | NCBI36 |
| NG_012876.1:g.17491A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.489A>G MANE Select | ENSP00000368021.3:p.Glu163= | |
| ENST00000263036.9:c.489A>G | ENSP00000263036.3:p.Glu163= | |
| ENST00000378747.7:c.489A>G | ENSP00000368021.3:p.Glu163= | |
| ENST00000378748.7:c.489A>G | ENSP00000368022.3:p.Glu163= | |
| ENST00000378752.7:c.489A>G | ENSP00000368027.3:p.Glu163= | |
| ENST00000378757.6:c.489A>G | ENSP00000368032.2:p.Glu163= | |
| ENST00000378764.6:c.489A>G | ENSP00000368040.1:p.Glu163= | |
| ENST00000430081.5:c.*394A>G | ENSP00000414747.2:n.*394A>G | |
| ENST00000482140.5:c.*109A>G | ENSP00000484961.1:n.*109A>G | |
| ENST00000486862.1:c.86A>G | ||
| NM_001008211.1:c.489A>G | NP_001008212.1:p.Glu163= | |
| NM_001008212.1:c.489A>G | NP_001008213.1:p.Glu163= | |
| NM_001008213.1:c.489A>G | NP_001008214.1:p.Glu163= | |
| NM_021980.4:c.489A>G | NP_068815.2:p.Glu163= | |
| XM_005252336.2:c.489A>G | XP_005252393.2:p.Glu163= | |
| XM_005252337.3:c.489A>G | XP_005252394.2:p.Glu163= | |
| XM_005252338.2:c.318A>G | XP_005252395.2:p.Glu106= | |
| NM_001008212.2:c.489A>G MANE Select | NP_001008213.1:p.Glu163= |