gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025445 (NFE)
Genomes Max Group AF
0.00019436 (NFE)
Exomes Max Group AF
0.00025292 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39391858G>A , CM000665.2:g.39391858G>A | GRCh38 |
| NC_000003.11:g.39433349G>A , CM000665.1:g.39433349G>A | GRCh37 |
| NC_000003.10:g.39408353G>A | NCBI36 |
| NG_016931.1:g.13535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.414G>A | ENSP00000495376.1:p.Gly138= | |
| ENST00000643672.1:c.411G>A | ENSP00000494532.1:p.Gly137= | |
| ENST00000645280.1:c.408G>A | ENSP00000496690.1:p.Gly136= | |
| ENST00000645630.1:c.282G>A | ENSP00000493714.1:p.Gly94= | |
| ENST00000648579.1:c.462G>A | ENSP00000497638.1:p.Gly154= | |
| ENST00000650617.1:c.462G>A MANE Select | ENSP00000497532.1:p.Gly154= | |
| ENST00000273158.8:c.462G>A | ENSP00000273158.3:p.Gly154= | |
| NM_017875.2:c.462G>A | NP_060345.2:p.Gly154= | |
| XM_006713214.1:c.450G>A | XP_006713277.1:p.Gly150= | |
| XM_011533869.1:c.444G>A | XP_011532171.1:p.Gly148= | |
| XM_011533870.1:c.411G>A | XP_011532172.1:p.Gly137= | |
| XM_011533871.1:c.282G>A | XP_011532173.1:p.Gly94= | |
| NM_001354798.1:c.462G>A | NP_001341727.1:p.Gly154= | |
| NM_017875.4:c.462G>A MANE Select | NP_060345.2:p.Gly154= | |
| XM_006713214.2:c.450G>A | XP_006713277.1:p.Gly150= | |
| XM_011533869.2:c.444G>A | XP_011532171.1:p.Gly148= | |
| XM_024453611.1:c.408G>A | XP_024309379.1:p.Gly136= | |
| NM_001354798.2:c.462G>A | NP_001341727.1:p.Gly154= |