gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60999417 (MID)
Genomes Max Group AF
0.60073867 (NFE)
Exomes Max Group AF
0.60909242 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28778825A>G , CM000664.2:g.28778825A>G | GRCh38 |
| NC_000002.11:g.29001691A>G , CM000664.1:g.29001691A>G | GRCh37 |
| NC_000002.10:g.28855195A>G | NCBI36 |
| NG_052878.1:g.32078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418910.2:c.201A>G | ENSP00000388056.2:p.Gln67= | |
| ENST00000420282.6:c.201A>G | ENSP00000398839.2:p.Gln67= | |
| ENST00000427786.2:c.*161A>G | ENSP00000394589.1:n.*161A>G | |
| ENST00000441461.6:c.201A>G | ENSP00000414918.2:p.Gln67= | |
| ENST00000455580.6:c.117A>G | ENSP00000390715.2:p.Gln39= | |
| ENST00000703171.1:c.*248A>G | ENSP00000515217.1:n.*248A>G | |
| ENST00000703172.1:c.117A>G | ENSP00000515218.1:p.Gln39= | |
| ENST00000703173.1:c.201A>G | ENSP00000515219.1:p.Gln67= | |
| ENST00000703174.1:c.201A>G | ENSP00000515220.1:p.Gln67= | |
| ENST00000703176.1:c.168A>G | ENSP00000515221.1:p.Gln56= | |
| ENST00000703177.1:c.*161A>G | ENSP00000515222.1:n.*161A>G | |
| ENST00000395366.3:c.201A>G MANE Select | ENSP00000378769.2:p.Gln67= | |
| ENST00000296122.10:c.201A>G | ENSP00000296122.6:p.Gln67= | |
| ENST00000358506.6:c.201A>G | ENSP00000351298.2:p.Gln67= | |
| ENST00000395366.2:c.201A>G | ENSP00000378769.2:p.Gln67= | |
| ENST00000420282.5:c.201A>G | ENSP00000398839.1:p.Gln67= | |
| ENST00000427786.1:c.*161A>G | ENSP00000394589.1:n.*161A>G | |
| ENST00000441461.5:c.201A>G | ENSP00000414918.1:p.Gln67= | |
| ENST00000455580.5:c.117A>G | ENSP00000390715.1:p.Gln39= | |
| NM_002709.2:c.201A>G | NP_002700.1:p.Gln67= | |
| NM_206876.1:c.201A>G | NP_996759.1:p.Gln67= | |
| NM_002709.3:c.201A>G MANE Select | NP_002700.1:p.Gln67= | |
| NM_206876.2:c.201A>G | NP_996759.1:p.Gln67= |