Linked Data
ClinVar Variation Id:
586013
dbSNP Id:
rs147552575
ExAC:
20:43034771 C / T
gnomAD v2:
20-43034771-C-T
gnomAD v3:
20-44406131-C-T
gnomAD v4:
20-44406131-C-T
ERepo:
CA9870170/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44406131C>T , CM000682.2:g.44406131C>T | GRCh38 |
| NC_000020.10:g.43034771C>T , CM000682.1:g.43034771C>T | GRCh37 |
| NC_000020.9:g.42468185C>T | NCBI36 |
| NG_009818.1:g.55331C>T , LRG_483:g.55331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.123C>T MANE Select | ENSP00000315180.4:p.Cys41= | |
| ENST00000316099.10:c.189C>T | ENSP00000312987.3:p.Cys63= | |
| ENST00000619550.5:c.163C>T | ||
| ENST00000681977.1:c.165C>T | ENSP00000507189.1:p.Cys55= | |
| ENST00000682169.1:c.142C>T | ||
| ENST00000683148.1:n.165C>T | ||
| ENST00000683657.1:n.165C>T | ||
| ENST00000684046.1:c.165C>T | ENSP00000507555.1:p.Cys55= | |
| ENST00000684136.1:c.165C>T | ENSP00000507389.1:p.Cys55= | |
| ENST00000684476.1:c.146C>T | ENSP00000507529.1:p.Ala49Val | |
| ENST00000316099.9:c.189C>T | ENSP00000312987.3:p.Cys63= | |
| ENST00000316099.8:c.189C>T | ENSP00000312987.3:p.Cys63= | |
| ENST00000316673.8:c.123C>T | ENSP00000315180.4:p.Cys41= | |
| ENST00000372920.1:c.280C>T | ENSP00000362011.1:p.Arg94Trp | |
| ENST00000415691.2:c.189C>T | ENSP00000412111.1:p.Cys63= | |
| ENST00000443598.6:c.189C>T | ENSP00000410911.2:p.Cys63= | |
| ENST00000457232.5:c.123C>T | ENSP00000396216.1:p.Cys41= | |
| ENST00000609262.5:c.114C>T | ENSP00000476310.1:p.Cys38= | |
| ENST00000609795.5:c.123C>T | ENSP00000476609.1:p.Cys41= | |
| ENST00000619550.4:c.114C>T | ENSP00000481331.1:p.Cys38= | |
| NM_000457.4:c.189C>T , LRG_483t2:c.189C>T | NP_000448.3:p.Cys63= | |
| NM_001030003.2:c.123C>T | NP_001025174.1:p.Cys41= | |
| NM_001030004.2:c.123C>T | NP_001025175.1:p.Cys41= | |
| NM_001258355.1:c.168C>T | NP_001245284.1:p.Cys56= | |
| NM_001287182.1:c.114C>T | NP_001274111.1:p.Cys38= | |
| NM_001287183.1:c.114C>T , LRG_483t3:c.114C>T | NP_001274112.1:p.Cys38= | |
| NM_001287184.1:c.114C>T | NP_001274113.1:p.Cys38= | |
| NM_175914.4:c.123C>T , LRG_483t1:c.123C>T | NP_787110.2:p.Cys41= | |
| NM_178849.2:c.189C>T | NP_849180.1:p.Cys63= | |
| NM_178850.2:c.189C>T | NP_849181.1:p.Cys63= | |
| XM_005260407.2:c.306C>T | XP_005260464.1:p.Cys102= | |
| XM_011528797.1:c.237C>T | XP_011527099.1:p.Cys79= | |
| XM_011528798.1:c.237C>T | XP_011527100.1:p.Cys79= | |
| XM_005260407.4:c.306C>T | XP_005260464.1:p.Cys102= | |
| NM_001030003.3:c.123C>T | NP_001025174.1:p.Cys41= | |
| NM_001030004.3:c.123C>T | NP_001025175.1:p.Cys41= | |
| NM_001258355.2:c.168C>T | NP_001245284.1:p.Cys56= | |
| NM_001287182.2:c.114C>T | NP_001274111.1:p.Cys38= | |
| NM_001287184.2:c.114C>T | NP_001274113.1:p.Cys38= | |
| NM_178849.3:c.189C>T | NP_849180.1:p.Cys63= | |
| NM_178850.3:c.189C>T | NP_849181.1:p.Cys63= | |
| NM_000457.5:c.189C>T | NP_000448.3:p.Cys63= | |
| NM_000457.6:c.189C>T | NP_000448.3:p.Cys63= | |
| NM_001287183.2:c.114C>T | NP_001274112.1:p.Cys38= | |
| NM_175914.5:c.123C>T MANE Select | NP_787110.2:p.Cys41= |