ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00272806 (SAS)
Genomes Max Group AF
0.00097053 (SAS)
Exomes Max Group AF
0.00278163 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3473468A>G , CM000666.2:g.3473468A>G | GRCh38 |
| NC_000004.11:g.3475195A>G , CM000666.1:g.3475195A>G | GRCh37 |
| NC_000004.10:g.3444993A>G | NCBI36 |
| NG_013072.2:g.15163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.163A>G MANE Select | ENSP00000344432.5:p.Ser55Gly | |
| ENST00000643608.1:c.100+9917A>G | ENSP00000495701.1:n.100+9917A>G | |
| ENST00000340083.5:c.163A>G | ENSP00000344432.5:p.Ser55Gly | |
| ENST00000503688.5:n.165+9917A>G | ||
| ENST00000507039.5:c.163A>G | ENSP00000423614.1:p.Ser55Gly | |
| ENST00000511267.5:n.182A>G | ||
| NM_001164673.1:c.163A>G | NP_001158145.1:p.Ser55Gly | |
| NM_001301071.1:c.163A>G | NP_001288000.1:p.Ser55Gly | |
| NM_173660.4:c.163A>G | NP_775931.3:p.Ser55Gly | |
| XM_011513435.1:c.163A>G | XP_011511737.1:p.Ser55Gly | |
| XM_011513436.1:c.163A>G | XP_011511738.1:p.Ser55Gly | |
| XM_011513437.1:c.-241A>G | XP_011511739.1:n.-241A>G | |
| NM_001363811.1:c.100+9917A>G | NP_001350740.1:n.100+9917A>G | |
| XM_011513435.2:c.163A>G | XP_011511737.1:p.Ser55Gly | |
| XM_011513437.2:c.-241A>G | XP_011511739.1:n.-241A>G | |
| NM_173660.5:c.163A>G MANE Select | NP_775931.3:p.Ser55Gly | |
| NM_001164673.2:c.163A>G | NP_001158145.1:p.Ser55Gly | |
| NM_001301071.2:c.163A>G | NP_001288000.1:p.Ser55Gly | |
| NM_001363811.2:c.100+9917A>G | NP_001350740.1:n.100+9917A>G |