Linked Data
ClinVar Variation Id:
797
dbSNP Id:
rs137854567
ExAC:
5:112154969 C / T
gnomAD v2:
5-112154969-C-T
gnomAD v3:
5-112819272-C-T
gnomAD v4:
5-112819272-C-T
ERepo:
CA004103/MONDO:0021056/089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112819272C>T , CM000667.2:g.112819272C>T | GRCh38 |
| NC_000005.9:g.112154969C>T , CM000667.1:g.112154969C>T | GRCh37 |
| NC_000005.8:g.112182868C>T | NCBI36 |
| NG_008481.4:g.131752C>T , LRG_130:g.131752C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1240C>T | ENSP00000484935.2:p.Arg414Cys | |
| ENST00000504915.3:c.1240C>T | ENSP00000473355.2:p.Arg414Cys | |
| ENST00000505084.2:n.1296C>T | ||
| ENST00000505350.2:c.*1246C>T | ENSP00000481752.1:n.*1246C>T | |
| ENST00000507379.6:c.1186C>T | ENSP00000423224.2:p.Arg396Cys | |
| ENST00000509732.6:c.1240C>T | ENSP00000426541.2:p.Arg414Cys | |
| ENST00000512211.7:c.1240C>T | ENSP00000423828.3:p.Arg414Cys | |
| ENST00000257430.9:c.1240C>T MANE Select | ENSP00000257430.4:p.Arg414Cys | |
| ENST00000257430.8:c.1240C>T | ENSP00000257430.4:p.Arg414Cys | |
| ENST00000507379.5:c.1186C>T | ENSP00000423224.1:p.Arg396Cys | |
| ENST00000508376.6:c.1240C>T | ENSP00000427089.2:p.Arg414Cys | |
| ENST00000508624.5:c.*562C>T | ENSP00000424265.1:n.*562C>T | |
| ENST00000512211.6:c.1240C>T | ENSP00000423828.2:p.Arg414Cys | |
| NM_000038.5:c.1240C>T | NP_000029.2:p.Arg414Cys | |
| NM_001127510.2:c.1240C>T | NP_001120982.1:p.Arg414Cys | |
| NM_001127511.2:c.1186C>T | NP_001120983.2:p.Arg396Cys | |
| NM_001354895.1:c.1240C>T | NP_001341824.1:p.Arg414Cys | |
| NM_001354896.1:c.1240C>T | NP_001341825.1:p.Arg414Cys | |
| NM_001354897.1:c.1270C>T | NP_001341826.1:p.Arg424Cys | |
| NM_001354898.1:c.1165C>T | NP_001341827.1:p.Arg389Cys | |
| NM_001354899.1:c.1156C>T | NP_001341828.1:p.Arg386Cys | |
| NM_001354900.1:c.1063C>T | NP_001341829.1:p.Arg355Cys | |
| NM_001354901.1:c.1063C>T | NP_001341830.1:p.Arg355Cys | |
| NM_001354902.1:c.967C>T | NP_001341831.1:p.Arg323Cys | |
| NM_001354903.1:c.937C>T | NP_001341832.1:p.Arg313Cys | |
| NM_001354904.1:c.862C>T | NP_001341833.1:p.Arg288Cys | |
| NM_001354905.1:c.760C>T | NP_001341834.1:p.Arg254Cys | |
| NM_001354906.1:c.391C>T | NP_001341835.1:p.Arg131Cys | |
| NM_000038.6:c.1240C>T MANE Select | NP_000029.2:p.Arg414Cys | |
| NM_001127510.3:c.1240C>T | NP_001120982.1:p.Arg414Cys | |
| NM_001127511.3:c.1186C>T | NP_001120983.2:p.Arg396Cys | |
| NM_001354895.2:c.1240C>T | NP_001341824.1:p.Arg414Cys | |
| NM_001354896.2:c.1240C>T | NP_001341825.1:p.Arg414Cys | |
| NM_001354897.2:c.1270C>T | NP_001341826.1:p.Arg424Cys | |
| NM_001354898.2:c.1165C>T | NP_001341827.1:p.Arg389Cys | |
| NM_001354899.2:c.1156C>T | NP_001341828.1:p.Arg386Cys | |
| NM_001354900.2:c.1063C>T | NP_001341829.1:p.Arg355Cys | |
| NM_001354901.2:c.1063C>T | NP_001341830.1:p.Arg355Cys | |
| NM_001354902.2:c.967C>T | NP_001341831.1:p.Arg323Cys | |
| NM_001354903.2:c.937C>T | NP_001341832.1:p.Arg313Cys | |
| NM_001354904.2:c.862C>T | NP_001341833.1:p.Arg288Cys | |
| NM_001354905.2:c.760C>T | NP_001341834.1:p.Arg254Cys | |
| NM_001354906.2:c.391C>T | NP_001341835.1:p.Arg131Cys |