Linked Data
ClinVar Variation Id:
21030
ClinVar RCV Id:
RCV000020089
RCV000074239
RCV000034393
RCV000035078
RCV000132160
RCV000358689
RCV001270286
RCV002286403
RCV003996112
dbSNP Id:
rs459552
ExAC:
5:112176756 T / A
gnomAD v2:
5-112176756-T-A
gnomAD v3:
5-112841059-T-A
gnomAD v4:
5-112841059-T-A
PubMed:
PMID:11221825
PMID:14616385
PMID:17556698
PMID:20149637
PMID:20301519
PMID:22703879
PMID:23159591
PMID:23576677
PMID:24039736
PMID:24728327
ERepo:
CA010422/MONDO:0021056/089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841059T>A , CM000667.2:g.112841059T>A | GRCh38 |
| NC_000005.9:g.112176756T>A , CM000667.1:g.112176756T>A | GRCh37 |
| NC_000005.8:g.112204655T>A | NCBI36 |
| NG_008481.4:g.153539T>A , LRG_130:g.153539T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5519T>A | ENSP00000473355.2:p.Val1840Asp | |
| ENST00000505350.2:c.*5471T>A | ENSP00000481752.1:n.*5471T>A | |
| ENST00000507379.6:c.5411T>A | ENSP00000423224.2:p.Val1804Asp | |
| ENST00000509732.6:c.5465T>A | ENSP00000426541.2:p.Val1822Asp | |
| ENST00000512211.7:c.5465T>A | ENSP00000423828.3:p.Val1822Asp | |
| ENST00000257430.9:c.5465T>A MANE Select | ENSP00000257430.4:p.Val1822Asp | |
| ENST00000257430.8:c.5465T>A | ENSP00000257430.4:p.Val1822Asp | |
| ENST00000508376.6:c.5465T>A | ENSP00000427089.2:p.Val1822Asp | |
| ENST00000508624.5:c.*4787T>A | ENSP00000424265.1:n.*4787T>A | |
| ENST00000520401.1:c.230+12087T>A | ||
| NM_000038.5:c.5465T>A | NP_000029.2:p.Val1822Asp | |
| NM_001127510.2:c.5465T>A | NP_001120982.1:p.Val1822Asp | |
| NM_001127511.2:c.5411T>A | NP_001120983.2:p.Val1804Asp | |
| NM_001354895.1:c.5465T>A | NP_001341824.1:p.Val1822Asp | |
| NM_001354896.1:c.5519T>A | NP_001341825.1:p.Val1840Asp | |
| NM_001354897.1:c.5495T>A | NP_001341826.1:p.Val1832Asp | |
| NM_001354898.1:c.5390T>A | NP_001341827.1:p.Val1797Asp | |
| NM_001354899.1:c.5381T>A | NP_001341828.1:p.Val1794Asp | |
| NM_001354900.1:c.5342T>A | NP_001341829.1:p.Val1781Asp | |
| NM_001354901.1:c.5288T>A | NP_001341830.1:p.Val1763Asp | |
| NM_001354902.1:c.5192T>A | NP_001341831.1:p.Val1731Asp | |
| NM_001354903.1:c.5162T>A | NP_001341832.1:p.Val1721Asp | |
| NM_001354904.1:c.5087T>A | NP_001341833.1:p.Val1696Asp | |
| NM_001354905.1:c.4985T>A | NP_001341834.1:p.Val1662Asp | |
| NM_001354906.1:c.4616T>A | NP_001341835.1:p.Val1539Asp | |
| NM_000038.6:c.5465T>A MANE Select | NP_000029.2:p.Val1822Asp | |
| NM_001127510.3:c.5465T>A | NP_001120982.1:p.Val1822Asp | |
| NM_001127511.3:c.5411T>A | NP_001120983.2:p.Val1804Asp | |
| NM_001354895.2:c.5465T>A | NP_001341824.1:p.Val1822Asp | |
| NM_001354896.2:c.5519T>A | NP_001341825.1:p.Val1840Asp | |
| NM_001354897.2:c.5495T>A | NP_001341826.1:p.Val1832Asp | |
| NM_001354898.2:c.5390T>A | NP_001341827.1:p.Val1797Asp | |
| NM_001354899.2:c.5381T>A | NP_001341828.1:p.Val1794Asp | |
| NM_001354900.2:c.5342T>A | NP_001341829.1:p.Val1781Asp | |
| NM_001354901.2:c.5288T>A | NP_001341830.1:p.Val1763Asp | |
| NM_001354902.2:c.5192T>A | NP_001341831.1:p.Val1731Asp | |
| NM_001354903.2:c.5162T>A | NP_001341832.1:p.Val1721Asp | |
| NM_001354904.2:c.5087T>A | NP_001341833.1:p.Val1696Asp | |
| NM_001354905.2:c.4985T>A | NP_001341834.1:p.Val1662Asp | |
| NM_001354906.2:c.4616T>A | NP_001341835.1:p.Val1539Asp |