gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01321934 (EAS)
Genomes Max Group AF
0.01151135 (EAS)
Exomes Max Group AF
0.01316426 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89217160T>G , CM000677.2:g.89217160T>G | GRCh38 |
| NC_000015.9:g.89760391T>G , CM000677.1:g.89760391T>G | GRCh37 |
| NC_000015.8:g.87561395T>G | NCBI36 |
| NG_008116.1:g.9532A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268125.10:c.306A>C MANE Select | ENSP00000268125.5:p.Ala102= | |
| ENST00000268125.9:c.306A>C | ENSP00000268125.5:p.Ala102= | |
| ENST00000567787.1:c.183+123A>C | ENSP00000457251.1:n.183+123A>C | |
| NM_000326.4:c.306A>C | NP_000317.1:p.Ala102= | |
| XM_011521870.1:c.306A>C | XP_011520172.1:p.Ala102= | |
| XM_011521871.1:c.231A>C | XP_011520173.1:p.Ala77= | |
| XM_011521872.1:c.231A>C | XP_011520174.1:p.Ala77= | |
| XM_011521870.2:c.306A>C | XP_011520172.1:p.Ala102= | |
| XM_017022460.1:c.333A>C | XP_016877949.1:p.Ala111= | |
| NM_000326.5:c.306A>C MANE Select | NP_000317.1:p.Ala102= |