Linked Data
ClinVar Variation Id:
448208
dbSNP Id:
rs140678034
ExAC:
13:23912432 C / G
gnomAD v2:
13-23912432-C-G
gnomAD v3:
13-23338293-C-G
gnomAD v4:
13-23338293-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338293C>G , CM000675.2:g.23338293C>G | GRCh38 |
| NC_000013.10:g.23912432C>G , CM000675.1:g.23912432C>G | GRCh37 |
| NC_000013.9:g.22810432C>G | NCBI36 |
| NG_012342.1:g.100410G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15492G>C | ENSP00000508399.1:n.2185+15492G>C | |
| ENST00000682944.1:c.5610G>C | ENSP00000507173.1:p.Trp1870Cys | |
| ENST00000683210.1:c.2185+15492G>C | ENSP00000506739.1:n.2185+15492G>C | |
| ENST00000683270.1:c.5574G>C | ENSP00000507624.1:p.Trp1858Cys | |
| ENST00000683367.1:c.2177-8809G>C | ENSP00000507780.1:n.2177-8809G>C | |
| ENST00000683489.1:c.2291+3292G>C | ENSP00000508403.1:n.2291+3292G>C | |
| ENST00000683680.1:c.2318+3292G>C | ENSP00000507223.1:n.2318+3292G>C | |
| ENST00000684163.1:c.2203+8518G>C | ENSP00000508262.1:n.2203+8518G>C | |
| ENST00000684196.1:n.4543-8809G>C | ||
| ENST00000684325.1:c.2185+15492G>C | ENSP00000508121.1:n.2185+15492G>C | |
| ENST00000684385.1:c.2220+8518G>C | ENSP00000507855.1:n.2220+8518G>C | |
| ENST00000684497.1:c.2185+15492G>C | ENSP00000507057.1:n.2185+15492G>C | |
| ENST00000382292.9:c.5583G>C MANE Select | ENSP00000371729.3:p.Trp1861Cys | |
| ENST00000423156.2:c.2186-8809G>C | ENSP00000390925.2:n.2186-8809G>C | |
| ENST00000455470.6:c.2431+3152G>C | ENSP00000406565.2:n.2431+3152G>C | |
| ENST00000382292.7:c.5583G>C | ENSP00000371729.3:p.Trp1861Cys | |
| ENST00000382298.7:c.5583G>C | ENSP00000371735.3:p.Trp1861Cys | |
| ENST00000402364.1:c.3333G>C | ENSP00000385844.1:p.Trp1111Cys | |
| ENST00000423156.1:c.1058-8809G>C | ENSP00000390925.1:n.1058-8809G>C | |
| ENST00000455470.5:c.2129+3152G>C | ||
| NM_001278055.1:c.5142G>C | NP_001264984.1:p.Trp1714Cys | |
| NM_014363.5:c.5583G>C | NP_055178.3:p.Trp1861Cys | |
| XM_005266338.1:c.5610G>C | XP_005266395.1:p.Trp1870Cys | |
| XM_011535038.1:c.5634G>C | XP_011533340.1:p.Trp1878Cys | |
| XM_011535039.1:c.5601G>C | XP_011533341.1:p.Trp1867Cys | |
| XM_005266338.2:c.5610G>C | XP_005266395.1:p.Trp1870Cys | |
| XM_011535039.2:c.5601G>C | XP_011533341.1:p.Trp1867Cys | |
| XM_017020539.1:c.5574G>C | XP_016876028.1:p.Trp1858Cys | |
| XM_024449337.1:c.5610G>C | XP_024305105.1:p.Trp1870Cys | |
| NM_014363.6:c.5583G>C MANE Select | NP_055178.3:p.Trp1861Cys | |
| NM_001278055.2:c.5142G>C | NP_001264984.1:p.Trp1714Cys |