Linked Data
ClinVar Variation Id:
2594005
ClinVar RCV Id:
RCV004339989
dbSNP Id:
rs139375613
ExAC:
12:93968884 G / A
gnomAD v2:
12-93968884-G-A
gnomAD v3:
12-93575108-G-A
gnomAD v4:
12-93575108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93575108G>A , CM000674.2:g.93575108G>A | GRCh38 |
| NC_000012.11:g.93968884G>A , CM000674.1:g.93968884G>A | GRCh37 |
| NC_000012.10:g.92493015G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551556.2:c.526G>A MANE Select | ENSP00000449227.1:p.Gly176Ser | |
| ENST00000340600.6:c.526G>A | ENSP00000339428.2:p.Gly176Ser | |
| ENST00000536696.6:c.526G>A | ENSP00000442898.2:p.Gly176Ser | |
| ENST00000548537.1:c.*1902G>A | ENSP00000448709.1:n.*1902G>A | |
| ENST00000549122.5:c.526G>A | ENSP00000447161.1:p.Gly176Ser | |
| ENST00000549206.5:c.526G>A | ENSP00000448815.1:p.Gly176Ser | |
| ENST00000549510.1:c.51G>A | ||
| ENST00000551556.1:c.526G>A | ENSP00000449227.1:p.Gly176Ser | |
| ENST00000551883.1:c.144G>A | ||
| ENST00000622746.4:c.526G>A | ENSP00000481249.1:p.Gly176Ser | |
| NM_001270467.1:c.526G>A | NP_001257396.1:p.Gly176Ser | |
| NM_001270468.1:c.526G>A | NP_001257397.1:p.Gly176Ser | |
| NM_001270469.1:c.526G>A | NP_001257398.1:p.Gly176Ser | |
| NM_001270470.1:c.526G>A | NP_001257399.1:p.Gly176Ser | |
| NM_001270471.1:c.526G>A | NP_001257400.1:p.Gly176Ser | |
| NM_003877.4:c.526G>A | NP_003868.1:p.Gly176Ser | |
| XM_005269213.3:c.526G>A | XP_005269270.2:p.Gly176Ser | |
| XM_006719673.1:c.526G>A | XP_006719736.1:p.Gly176Ser | |
| XM_006719674.1:c.526G>A | XP_006719737.1:p.Gly176Ser | |
| XM_011538929.1:c.526G>A | XP_011537231.1:p.Gly176Ser | |
| XM_011538930.1:c.526G>A | XP_011537232.1:p.Gly176Ser | |
| XM_011538931.1:c.526G>A | XP_011537233.1:p.Gly176Ser | |
| XM_011538932.1:c.526G>A | XP_011537234.1:p.Gly176Ser | |
| XM_011538933.1:c.526G>A | XP_011537235.1:p.Gly176Ser | |
| XM_011538934.1:c.526G>A | XP_011537236.1:p.Gly176Ser | |
| XM_011538935.1:c.526G>A | XP_011537237.1:p.Gly176Ser | |
| XM_011538936.1:c.526G>A | XP_011537238.1:p.Gly176Ser | |
| XR_944810.1:n.941G>A | ||
| XM_017020147.1:c.526G>A | XP_016875636.1:p.Gly176Ser | |
| XM_017020148.2:c.526G>A | XP_016875637.1:p.Gly176Ser | |
| XM_017020149.1:c.526G>A | XP_016875638.1:p.Gly176Ser | |
| XM_017020151.1:c.526G>A | XP_016875640.1:p.Gly176Ser | |
| XM_017020152.1:c.526G>A | XP_016875641.1:p.Gly176Ser | |
| XM_017020155.2:c.526G>A | XP_016875644.1:p.Gly176Ser | |
| NM_001270471.2:c.526G>A MANE Select | NP_001257400.1:p.Gly176Ser | |
| NM_001270467.2:c.526G>A | NP_001257396.1:p.Gly176Ser | |
| NM_001270468.2:c.526G>A | NP_001257397.1:p.Gly176Ser | |
| NM_001270469.2:c.526G>A | NP_001257398.1:p.Gly176Ser | |
| NM_003877.5:c.526G>A | NP_003868.1:p.Gly176Ser |