Linked Data
ClinVar Variation Id:
188075
dbSNP Id:
rs72541813
ExAC:
5:112176056 C / T
gnomAD v2:
5-112176056-C-T
gnomAD v3:
5-112840359-C-T
gnomAD v4:
5-112840359-C-T
PubMed:
PMID:18199528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840359C>T , CM000667.2:g.112840359C>T | GRCh38 |
| NC_000005.9:g.112176056C>T , CM000667.1:g.112176056C>T | GRCh37 |
| NC_000005.8:g.112203955C>T | NCBI36 |
| NG_008481.4:g.152839C>T , LRG_130:g.152839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4819C>T | ENSP00000473355.2:p.Arg1607Cys | |
| ENST00000505350.2:c.*4771C>T | ENSP00000481752.1:n.*4771C>T | |
| ENST00000507379.6:c.4711C>T | ENSP00000423224.2:p.Arg1571Cys | |
| ENST00000509732.6:c.4765C>T | ENSP00000426541.2:p.Arg1589Cys | |
| ENST00000512211.7:c.4765C>T | ENSP00000423828.3:p.Arg1589Cys | |
| ENST00000257430.9:c.4765C>T MANE Select | ENSP00000257430.4:p.Arg1589Cys | |
| ENST00000257430.8:c.4765C>T | ENSP00000257430.4:p.Arg1589Cys | |
| ENST00000508376.6:c.4765C>T | ENSP00000427089.2:p.Arg1589Cys | |
| ENST00000508624.5:c.*4087C>T | ENSP00000424265.1:n.*4087C>T | |
| ENST00000520401.1:c.230+11387C>T | ||
| NM_000038.5:c.4765C>T | NP_000029.2:p.Arg1589Cys | |
| NM_001127510.2:c.4765C>T | NP_001120982.1:p.Arg1589Cys | |
| NM_001127511.2:c.4711C>T | NP_001120983.2:p.Arg1571Cys | |
| NM_001354895.1:c.4765C>T | NP_001341824.1:p.Arg1589Cys | |
| NM_001354896.1:c.4819C>T | NP_001341825.1:p.Arg1607Cys | |
| NM_001354897.1:c.4795C>T | NP_001341826.1:p.Arg1599Cys | |
| NM_001354898.1:c.4690C>T | NP_001341827.1:p.Arg1564Cys | |
| NM_001354899.1:c.4681C>T | NP_001341828.1:p.Arg1561Cys | |
| NM_001354900.1:c.4642C>T | NP_001341829.1:p.Arg1548Cys | |
| NM_001354901.1:c.4588C>T | NP_001341830.1:p.Arg1530Cys | |
| NM_001354902.1:c.4492C>T | NP_001341831.1:p.Arg1498Cys | |
| NM_001354903.1:c.4462C>T | NP_001341832.1:p.Arg1488Cys | |
| NM_001354904.1:c.4387C>T | NP_001341833.1:p.Arg1463Cys | |
| NM_001354905.1:c.4285C>T | NP_001341834.1:p.Arg1429Cys | |
| NM_001354906.1:c.3916C>T | NP_001341835.1:p.Arg1306Cys | |
| NM_000038.6:c.4765C>T MANE Select | NP_000029.2:p.Arg1589Cys | |
| NM_001127510.3:c.4765C>T | NP_001120982.1:p.Arg1589Cys | |
| NM_001127511.3:c.4711C>T | NP_001120983.2:p.Arg1571Cys | |
| NM_001354895.2:c.4765C>T | NP_001341824.1:p.Arg1589Cys | |
| NM_001354896.2:c.4819C>T | NP_001341825.1:p.Arg1607Cys | |
| NM_001354897.2:c.4795C>T | NP_001341826.1:p.Arg1599Cys | |
| NM_001354898.2:c.4690C>T | NP_001341827.1:p.Arg1564Cys | |
| NM_001354899.2:c.4681C>T | NP_001341828.1:p.Arg1561Cys | |
| NM_001354900.2:c.4642C>T | NP_001341829.1:p.Arg1548Cys | |
| NM_001354901.2:c.4588C>T | NP_001341830.1:p.Arg1530Cys | |
| NM_001354902.2:c.4492C>T | NP_001341831.1:p.Arg1498Cys | |
| NM_001354903.2:c.4462C>T | NP_001341832.1:p.Arg1488Cys | |
| NM_001354904.2:c.4387C>T | NP_001341833.1:p.Arg1463Cys | |
| NM_001354905.2:c.4285C>T | NP_001341834.1:p.Arg1429Cys | |
| NM_001354906.2:c.3916C>T | NP_001341835.1:p.Arg1306Cys |