Linked Data
ClinVar Variation Id:
348593
ClinVar RCV Id:
RCV000269056
dbSNP Id:
rs144577122
ExAC:
4:2834742 C / G
gnomAD v2:
4-2834742-C-G
gnomAD v3:
4-2833015-C-G
gnomAD v4:
4-2833015-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2833015C>G , CM000666.2:g.2833015C>G | GRCh38 |
| NC_000004.11:g.2834742C>G , CM000666.1:g.2834742C>G | GRCh37 |
| NC_000004.10:g.2804540C>G | NCBI36 |
| NG_011609.1:g.44993C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.1598C>G | ENSP00000403231.3:p.Ser533Cys | |
| ENST00000452765.7:c.163C>G | ||
| ENST00000503393.8:c.1514C>G MANE Select | ENSP00000422168.3:p.Ser505Cys | |
| ENST00000511747.6:c.1685C>G | ENSP00000424846.2:p.Ser562Cys | |
| ENST00000356331.9:c.1514C>G | ENSP00000348685.5:p.Ser505Cys | |
| ENST00000435136.6:c.1514C>G | ENSP00000403231.2:p.Ser505Cys | |
| ENST00000442312.6:c.1598C>G | ENSP00000388152.2:p.Ser533Cys | |
| ENST00000452765.6:c.1514C>G | ENSP00000409746.2:p.Ser505Cys | |
| ENST00000503393.6:c.1685C>G | ENSP00000422168.2:p.Ser562Cys | |
| ENST00000504450.1:n.811C>G | ||
| ENST00000510204.5:n.2343C>G | ||
| ENST00000511747.5:c.1514C>G | ENSP00000424846.1:p.Ser505Cys | |
| ENST00000513069.1:c.568C>G | ||
| ENST00000515737.5:c.*1399C>G | ENSP00000422605.1:n.*1399C>G | |
| ENST00000515802.5:n.1620C>G | ||
| NM_001122681.1:c.1514C>G | NP_001116153.1:p.Ser505Cys | |
| NM_001145855.1:c.1598C>G | NP_001139327.1:p.Ser533Cys | |
| NM_001145856.1:c.1685C>G | NP_001139328.1:p.Ser562Cys | |
| NM_003023.4:c.1514C>G | NP_003014.3:p.Ser505Cys | |
| XM_005247998.3:c.1523C>G | XP_005248055.1:p.Ser508Cys | |
| XM_005247999.3:c.1514C>G | XP_005248056.1:p.Ser505Cys | |
| XM_011513547.1:c.1685C>G | XP_011511849.1:p.Ser562Cys | |
| XM_011513548.1:c.1527C>G | XP_011511850.1:p.Leu509= | |
| XM_011513549.1:c.1514C>G | XP_011511851.1:p.Ser505Cys | |
| XM_011513550.1:c.1514C>G | XP_011511852.1:p.Ser505Cys | |
| XM_011513551.1:c.1458C>G | XP_011511853.1:p.Leu486= | |
| XM_011513552.1:c.1343C>G | XP_011511854.1:p.Ser448Cys | |
| XM_011513553.1:c.1151C>G | XP_011511855.1:p.Ser384Cys | |
| XM_011513554.1:c.803C>G | XP_011511856.1:p.Ser268Cys | |
| XM_011513555.1:c.928C>G | XP_011511857.1:p.Leu310Val | |
| XM_011513556.1:c.859C>G | XP_011511858.1:p.Leu287Val | |
| XR_924990.1:n.1587C>G | ||
| NM_001122681.2:c.1514C>G MANE Select | NP_001116153.1:p.Ser505Cys | |
| NM_001145855.2:c.1598C>G | NP_001139327.1:p.Ser533Cys | |
| NM_001145856.2:c.1685C>G | NP_001139328.1:p.Ser562Cys |