gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001377 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3476523C>T , CM000666.2:g.3476523C>T | GRCh38 |
| NC_000004.11:g.3478250C>T , CM000666.1:g.3478250C>T | GRCh37 |
| NC_000004.10:g.3448048C>T | NCBI36 |
| NG_013072.2:g.18218C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.513C>T MANE Select | ENSP00000344432.5:p.Gly171= | |
| ENST00000643608.1:c.101-9016C>T | ENSP00000495701.1:n.101-9016C>T | |
| ENST00000340083.5:c.513C>T | ENSP00000344432.5:p.Gly171= | |
| ENST00000503688.5:n.166-9016C>T | ||
| ENST00000507039.5:c.513C>T | ENSP00000423614.1:p.Gly171= | |
| ENST00000511267.5:n.532C>T | ||
| NM_001164673.1:c.513C>T | NP_001158145.1:p.Gly171= | |
| NM_001301071.1:c.513C>T | NP_001288000.1:p.Gly171= | |
| NM_173660.4:c.513C>T | NP_775931.3:p.Gly171= | |
| XM_011513435.1:c.513C>T | XP_011511737.1:p.Gly171= | |
| XM_011513436.1:c.513C>T | XP_011511738.1:p.Gly171= | |
| XM_011513437.1:c.110C>T | XP_011511739.1:p.Ala37Val | |
| NM_001363811.1:c.101-9016C>T | NP_001350740.1:n.101-9016C>T | |
| XM_011513435.2:c.513C>T | XP_011511737.1:p.Gly171= | |
| XM_011513437.2:c.110C>T | XP_011511739.1:p.Ala37Val | |
| NM_173660.5:c.513C>T MANE Select | NP_775931.3:p.Gly171= | |
| NM_001164673.2:c.513C>T | NP_001158145.1:p.Gly171= | |
| NM_001301071.2:c.513C>T | NP_001288000.1:p.Gly171= | |
| NM_001363811.2:c.101-9016C>T | NP_001350740.1:n.101-9016C>T |