ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00163833 (AFR)
Genomes Max Group AF
0.00130112 (AFR)
Exomes Max Group AF
0.00183202 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3493244C>G , CM000666.2:g.3493244C>G | GRCh38 |
| NC_000004.11:g.3494971C>G , CM000666.1:g.3494971C>G | GRCh37 |
| NC_000004.10:g.3464769C>G | NCBI36 |
| NG_013072.2:g.34939C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.1258C>G MANE Select | ENSP00000344432.5:p.Pro420Ala | |
| ENST00000643608.1:c.826C>G | ENSP00000495701.1:p.Pro276Ala | |
| ENST00000340083.5:c.1258C>G | ENSP00000344432.5:p.Pro420Ala | |
| ENST00000507039.5:c.*479C>G | ENSP00000423614.1:n.*479C>G | |
| ENST00000512714.1:n.450C>G | ||
| ENST00000515886.5:n.1026C>G | ||
| NM_001164673.1:c.*479C>G | NP_001158145.1:n.*479C>G | |
| NM_001256896.1:c.328C>G | NP_001243825.1:p.Pro110Ala | |
| NM_001301071.1:c.1258C>G | NP_001288000.1:p.Pro420Ala | |
| NM_173660.4:c.1258C>G | NP_775931.3:p.Pro420Ala | |
| XM_011513435.1:c.1258C>G | XP_011511737.1:p.Pro420Ala | |
| XM_011513436.1:c.1258C>G | XP_011511738.1:p.Pro420Ala | |
| XM_011513437.1:c.844C>G | XP_011511739.1:p.Pro282Ala | |
| NM_001363811.1:c.826C>G | NP_001350740.1:p.Pro276Ala | |
| XM_011513435.2:c.1258C>G | XP_011511737.1:p.Pro420Ala | |
| XM_011513437.2:c.844C>G | XP_011511739.1:p.Pro282Ala | |
| NM_173660.5:c.1258C>G MANE Select | NP_775931.3:p.Pro420Ala | |
| NM_001164673.2:c.*479C>G | NP_001158145.1:n.*479C>G | |
| NM_001301071.2:c.1258C>G | NP_001288000.1:p.Pro420Ala | |
| NM_001363811.2:c.826C>G | NP_001350740.1:p.Pro276Ala | |
| NM_001256896.2:c.328C>G | NP_001243825.1:p.Pro110Ala |