Linked Data
ClinVar Variation Id:
135716
ClinVar RCV Id:
RCV000131625
RCV000148359
RCV000211933
RCV001719892
RCV003905173
RCV003743581
RCV003153405
RCV000987581
RCV001151806
dbSNP Id:
rs146048493
ExAC:
5:112178276 A / G
gnomAD v2:
5-112178276-A-G
gnomAD v3:
5-112842579-A-G
gnomAD v4:
5-112842579-A-G
COSMIC:
COSM2991094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842579A>G , CM000667.2:g.112842579A>G | GRCh38 |
| NC_000005.9:g.112178276A>G , CM000667.1:g.112178276A>G | GRCh37 |
| NC_000005.8:g.112206175A>G | NCBI36 |
| NG_008481.4:g.155059A>G , LRG_130:g.155059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7039A>G | ENSP00000473355.2:p.Ile2347Val | |
| ENST00000505350.2:c.*6991A>G | ENSP00000481752.1:n.*6991A>G | |
| ENST00000507379.6:c.6931A>G | ENSP00000423224.2:p.Ile2311Val | |
| ENST00000509732.6:c.6985A>G | ENSP00000426541.2:p.Ile2329Val | |
| ENST00000512211.7:c.6985A>G | ENSP00000423828.3:p.Ile2329Val | |
| ENST00000257430.9:c.6985A>G MANE Select | ENSP00000257430.4:p.Ile2329Val | |
| ENST00000257430.8:c.6985A>G | ENSP00000257430.4:p.Ile2329Val | |
| ENST00000508376.6:c.6985A>G | ENSP00000427089.2:p.Ile2329Val | |
| ENST00000508624.5:c.*6307A>G | ENSP00000424265.1:n.*6307A>G | |
| ENST00000520401.1:c.230+13607A>G | ||
| NM_000038.5:c.6985A>G | NP_000029.2:p.Ile2329Val | |
| NM_001127510.2:c.6985A>G | NP_001120982.1:p.Ile2329Val | |
| NM_001127511.2:c.6931A>G | NP_001120983.2:p.Ile2311Val | |
| NM_001354895.1:c.6985A>G | NP_001341824.1:p.Ile2329Val | |
| NM_001354896.1:c.7039A>G | NP_001341825.1:p.Ile2347Val | |
| NM_001354897.1:c.7015A>G | NP_001341826.1:p.Ile2339Val | |
| NM_001354898.1:c.6910A>G | NP_001341827.1:p.Ile2304Val | |
| NM_001354899.1:c.6901A>G | NP_001341828.1:p.Ile2301Val | |
| NM_001354900.1:c.6862A>G | NP_001341829.1:p.Ile2288Val | |
| NM_001354901.1:c.6808A>G | NP_001341830.1:p.Ile2270Val | |
| NM_001354902.1:c.6712A>G | NP_001341831.1:p.Ile2238Val | |
| NM_001354903.1:c.6682A>G | NP_001341832.1:p.Ile2228Val | |
| NM_001354904.1:c.6607A>G | NP_001341833.1:p.Ile2203Val | |
| NM_001354905.1:c.6505A>G | NP_001341834.1:p.Ile2169Val | |
| NM_001354906.1:c.6136A>G | NP_001341835.1:p.Ile2046Val | |
| NM_000038.6:c.6985A>G MANE Select | NP_000029.2:p.Ile2329Val | |
| NM_001127510.3:c.6985A>G | NP_001120982.1:p.Ile2329Val | |
| NM_001127511.3:c.6931A>G | NP_001120983.2:p.Ile2311Val | |
| NM_001354895.2:c.6985A>G | NP_001341824.1:p.Ile2329Val | |
| NM_001354896.2:c.7039A>G | NP_001341825.1:p.Ile2347Val | |
| NM_001354897.2:c.7015A>G | NP_001341826.1:p.Ile2339Val | |
| NM_001354898.2:c.6910A>G | NP_001341827.1:p.Ile2304Val | |
| NM_001354899.2:c.6901A>G | NP_001341828.1:p.Ile2301Val | |
| NM_001354900.2:c.6862A>G | NP_001341829.1:p.Ile2288Val | |
| NM_001354901.2:c.6808A>G | NP_001341830.1:p.Ile2270Val | |
| NM_001354902.2:c.6712A>G | NP_001341831.1:p.Ile2238Val | |
| NM_001354903.2:c.6682A>G | NP_001341832.1:p.Ile2228Val | |
| NM_001354904.2:c.6607A>G | NP_001341833.1:p.Ile2203Val | |
| NM_001354905.2:c.6505A>G | NP_001341834.1:p.Ile2169Val | |
| NM_001354906.2:c.6136A>G | NP_001341835.1:p.Ile2046Val |