Linked Data
ClinVar Variation Id:
469719
ClinVar RCV Id:
RCV000554226
RCV000561260
RCV001356454
RCV000764562
RCV002231842
RCV003153714
RCV003493637
RCV003403312
RCV003999361
dbSNP Id:
rs372416031
ExAC:
5:112170666 G / A
gnomAD v2:
5-112170666-G-A
gnomAD v3:
5-112834969-G-A
gnomAD v4:
5-112834969-G-A
COSMIC:
COSM1580513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112834969G>A , CM000667.2:g.112834969G>A | GRCh38 |
| NC_000005.9:g.112170666G>A , CM000667.1:g.112170666G>A | GRCh37 |
| NC_000005.8:g.112198565G>A | NCBI36 |
| NG_008481.4:g.147449G>A , LRG_130:g.147449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1427G>A | ENSP00000484935.2:p.Arg476His | |
| ENST00000504915.3:c.1816G>A | ENSP00000473355.2:p.Val606Ile | |
| ENST00000505350.2:c.*1768G>A | ENSP00000481752.1:n.*1768G>A | |
| ENST00000507379.6:c.1708G>A | ENSP00000423224.2:p.Val570Ile | |
| ENST00000509732.6:c.1762G>A | ENSP00000426541.2:p.Val588Ile | |
| ENST00000512211.7:c.1762G>A | ENSP00000423828.3:p.Val588Ile | |
| ENST00000257430.9:c.1762G>A MANE Select | ENSP00000257430.4:p.Val588Ile | |
| ENST00000257430.8:c.1762G>A | ENSP00000257430.4:p.Val588Ile | |
| ENST00000502371.2:c.115G>A | ||
| ENST00000504915.2:c.451G>A | ENSP00000473355.1:p.Val151Ile | |
| ENST00000507379.5:c.1708G>A | ENSP00000423224.1:p.Val570Ile | |
| ENST00000508376.6:c.1762G>A | ENSP00000427089.2:p.Val588Ile | |
| ENST00000508624.5:c.*1084G>A | ENSP00000424265.1:n.*1084G>A | |
| ENST00000512211.6:c.1762G>A | ENSP00000423828.2:p.Val588Ile | |
| ENST00000520401.1:c.230+5997G>A | ||
| NM_000038.5:c.1762G>A | NP_000029.2:p.Val588Ile | |
| NM_001127510.2:c.1762G>A | NP_001120982.1:p.Val588Ile | |
| NM_001127511.2:c.1708G>A | NP_001120983.2:p.Val570Ile | |
| NM_001354895.1:c.1762G>A | NP_001341824.1:p.Val588Ile | |
| NM_001354896.1:c.1816G>A | NP_001341825.1:p.Val606Ile | |
| NM_001354897.1:c.1792G>A | NP_001341826.1:p.Val598Ile | |
| NM_001354898.1:c.1687G>A | NP_001341827.1:p.Val563Ile | |
| NM_001354899.1:c.1678G>A | NP_001341828.1:p.Val560Ile | |
| NM_001354900.1:c.1639G>A | NP_001341829.1:p.Val547Ile | |
| NM_001354901.1:c.1585G>A | NP_001341830.1:p.Val529Ile | |
| NM_001354902.1:c.1489G>A | NP_001341831.1:p.Val497Ile | |
| NM_001354903.1:c.1459G>A | NP_001341832.1:p.Val487Ile | |
| NM_001354904.1:c.1384G>A | NP_001341833.1:p.Val462Ile | |
| NM_001354905.1:c.1282G>A | NP_001341834.1:p.Val428Ile | |
| NM_001354906.1:c.913G>A | NP_001341835.1:p.Val305Ile | |
| NM_000038.6:c.1762G>A MANE Select | NP_000029.2:p.Val588Ile | |
| NM_001127510.3:c.1762G>A | NP_001120982.1:p.Val588Ile | |
| NM_001127511.3:c.1708G>A | NP_001120983.2:p.Val570Ile | |
| NM_001354895.2:c.1762G>A | NP_001341824.1:p.Val588Ile | |
| NM_001354896.2:c.1816G>A | NP_001341825.1:p.Val606Ile | |
| NM_001354897.2:c.1792G>A | NP_001341826.1:p.Val598Ile | |
| NM_001354898.2:c.1687G>A | NP_001341827.1:p.Val563Ile | |
| NM_001354899.2:c.1678G>A | NP_001341828.1:p.Val560Ile | |
| NM_001354900.2:c.1639G>A | NP_001341829.1:p.Val547Ile | |
| NM_001354901.2:c.1585G>A | NP_001341830.1:p.Val529Ile | |
| NM_001354902.2:c.1489G>A | NP_001341831.1:p.Val497Ile | |
| NM_001354903.2:c.1459G>A | NP_001341832.1:p.Val487Ile | |
| NM_001354904.2:c.1384G>A | NP_001341833.1:p.Val462Ile | |
| NM_001354905.2:c.1282G>A | NP_001341834.1:p.Val428Ile | |
| NM_001354906.2:c.913G>A | NP_001341835.1:p.Val305Ile |