Linked Data
ClinVar Variation Id:
2168235
ClinVar RCV Id:
RCV003100306
dbSNP Id:
rs1392022077
gnomAD v2:
4-103681926-C-T
gnomAD v3:
4-102760769-C-T
gnomAD v4:
4-102760769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102760769C>T , CM000666.2:g.102760769C>T | GRCh38 |
| NC_000004.11:g.103681926C>T , CM000666.1:g.103681926C>T | GRCh37 |
| NC_000004.10:g.103900971C>T | NCBI36 |
| NG_012804.1:g.5226G>A | |
| NG_012804.2:g.5226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642252.1:c.126G>A | ENSP00000495483.1:p.Gly42= | |
| ENST00000644159.1:c.126G>A | ENSP00000494462.1:p.Gly42= | |
| ENST00000644545.1:c.126G>A | ENSP00000493992.1:p.Gly42= | |
| ENST00000644965.1:c.126G>A | ENSP00000495818.1:p.Gly42= | |
| ENST00000645348.1:c.126G>A | ENSP00000495363.1:p.Gly42= | |
| ENST00000646311.1:c.126G>A | ENSP00000493465.1:p.Gly42= | |
| ENST00000646727.1:c.126G>A | ENSP00000493519.1:p.Gly42= | |
| ENST00000647097.2:c.126G>A MANE Select | ENSP00000495247.1:p.Gly42= | |
| ENST00000226578.8:c.126G>A | ENSP00000226578.4:p.Gly42= | |
| ENST00000505239.1:c.126G>A | ENSP00000427322.1:p.Gly42= | |
| ENST00000507358.1:n.226G>A | ||
| ENST00000511813.1:c.126G>A | ENSP00000422001.1:p.Gly42= | |
| ENST00000514430.5:n.173G>A | ||
| NM_005908.3:c.126G>A | NP_005899.3:p.Gly42= | |
| XM_017008203.1:c.-411G>A | XP_016863692.1:n.-411G>A | |
| XM_017008204.2:c.-399G>A | XP_016863693.1:n.-399G>A | |
| NM_005908.4:c.126G>A MANE Select | NP_005899.3:p.Gly42= |