ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000122 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Revel Score:
ENST00000316673 (MANE Select)
0.232
ENST00000457232
0.232
ENST00000316099
0.232
ENST00000443598
0.232
ENST00000338692
0.232
ENST00000415691
0.232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44414534G>A , CM000682.2:g.44414534G>A | GRCh38 |
| NC_000020.10:g.43043174G>A , CM000682.1:g.43043174G>A | GRCh37 |
| NC_000020.9:g.42476588G>A | NCBI36 |
| NG_009818.1:g.63734G>A , LRG_483:g.63734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.454G>A MANE Select | ENSP00000315180.4:p.Gly152Ser | |
| ENST00000316099.10:c.520G>A | ENSP00000312987.3:p.Gly174Ser | |
| ENST00000619550.5:c.494G>A | ||
| ENST00000683148.1:n.496G>A | ||
| ENST00000683657.1:n.1644G>A | ||
| ENST00000316099.9:c.520G>A | ENSP00000312987.3:p.Gly174Ser | |
| ENST00000316099.8:c.520G>A | ENSP00000312987.3:p.Gly174Ser | |
| ENST00000316673.8:c.454G>A | ENSP00000315180.4:p.Gly152Ser | |
| ENST00000372920.1:c.*287G>A | ENSP00000362011.1:n.*287G>A | |
| ENST00000415691.2:c.520G>A | ENSP00000412111.1:p.Gly174Ser | |
| ENST00000443598.6:c.520G>A | ENSP00000410911.2:p.Gly174Ser | |
| ENST00000457232.5:c.454G>A | ENSP00000396216.1:p.Gly152Ser | |
| ENST00000609795.5:c.454G>A | ENSP00000476609.1:p.Gly152Ser | |
| ENST00000619550.4:c.445G>A | ENSP00000481331.1:p.Gly149Ser | |
| NM_000457.4:c.520G>A , LRG_483t2:c.520G>A | NP_000448.3:p.Gly174Ser | |
| NM_001030003.2:c.454G>A | NP_001025174.1:p.Gly152Ser | |
| NM_001030004.2:c.454G>A | NP_001025175.1:p.Gly152Ser | |
| NM_001258355.1:c.499G>A | NP_001245284.1:p.Gly167Ser | |
| NM_001287182.1:c.445G>A | NP_001274111.1:p.Gly149Ser | |
| NM_001287183.1:c.445G>A , LRG_483t3:c.445G>A | NP_001274112.1:p.Gly149Ser | |
| NM_001287184.1:c.445G>A | NP_001274113.1:p.Gly149Ser | |
| NM_175914.4:c.454G>A , LRG_483t1:c.454G>A | NP_787110.2:p.Gly152Ser | |
| NM_178849.2:c.520G>A | NP_849180.1:p.Gly174Ser | |
| NM_178850.2:c.520G>A | NP_849181.1:p.Gly174Ser | |
| XM_005260407.2:c.637G>A | XP_005260464.1:p.Gly213Ser | |
| XM_011528797.1:c.568G>A | XP_011527099.1:p.Gly190Ser | |
| XM_011528798.1:c.568G>A | XP_011527100.1:p.Gly190Ser | |
| XM_005260407.4:c.637G>A | XP_005260464.1:p.Gly213Ser | |
| NM_001030003.3:c.454G>A | NP_001025174.1:p.Gly152Ser | |
| NM_001030004.3:c.454G>A | NP_001025175.1:p.Gly152Ser | |
| NM_001258355.2:c.499G>A | NP_001245284.1:p.Gly167Ser | |
| NM_001287182.2:c.445G>A | NP_001274111.1:p.Gly149Ser | |
| NM_001287184.2:c.445G>A | NP_001274113.1:p.Gly149Ser | |
| NM_178849.3:c.520G>A | NP_849180.1:p.Gly174Ser | |
| NM_178850.3:c.520G>A | NP_849181.1:p.Gly174Ser | |
| NM_000457.5:c.520G>A | NP_000448.3:p.Gly174Ser | |
| NM_000457.6:c.520G>A | NP_000448.3:p.Gly174Ser | |
| NM_001287183.2:c.445G>A | NP_001274112.1:p.Gly149Ser | |
| NM_175914.5:c.454G>A MANE Select | NP_787110.2:p.Gly152Ser |