Linked Data
ClinVar Variation Id:
135724
ClinVar RCV Id:
RCV000148374
RCV000122809
RCV000587542
RCV001549270
RCV000493019
RCV003534364
RCV001157355
RCV003153406
dbSNP Id:
rs146115809
ExAC:
5:112179557 A / G
gnomAD v2:
5-112179557-A-G
gnomAD v3:
5-112843860-A-G
gnomAD v4:
5-112843860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843860A>G , CM000667.2:g.112843860A>G | GRCh38 |
| NC_000005.9:g.112179557A>G , CM000667.1:g.112179557A>G | GRCh37 |
| NC_000005.8:g.112207456A>G | NCBI36 |
| NG_008481.4:g.156340A>G , LRG_130:g.156340A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8320A>G | ENSP00000473355.2:p.Ile2774Val | |
| ENST00000505350.2:c.*8272A>G | ENSP00000481752.1:n.*8272A>G | |
| ENST00000507379.6:c.8212A>G | ENSP00000423224.2:p.Ile2738Val | |
| ENST00000509732.6:c.8266A>G | ENSP00000426541.2:p.Ile2756Val | |
| ENST00000512211.7:c.8266A>G | ENSP00000423828.3:p.Ile2756Val | |
| ENST00000257430.9:c.8266A>G MANE Select | ENSP00000257430.4:p.Ile2756Val | |
| ENST00000257430.8:c.8266A>G | ENSP00000257430.4:p.Ile2756Val | |
| ENST00000508376.6:c.8266A>G | ENSP00000427089.2:p.Ile2756Val | |
| ENST00000520401.1:c.231-12789A>G | ||
| NM_000038.5:c.8266A>G | NP_000029.2:p.Ile2756Val | |
| NM_001127510.2:c.8266A>G | NP_001120982.1:p.Ile2756Val | |
| NM_001127511.2:c.8212A>G | NP_001120983.2:p.Ile2738Val | |
| NM_001354895.1:c.8266A>G | NP_001341824.1:p.Ile2756Val | |
| NM_001354896.1:c.8320A>G | NP_001341825.1:p.Ile2774Val | |
| NM_001354897.1:c.8296A>G | NP_001341826.1:p.Ile2766Val | |
| NM_001354898.1:c.8191A>G | NP_001341827.1:p.Ile2731Val | |
| NM_001354899.1:c.8182A>G | NP_001341828.1:p.Ile2728Val | |
| NM_001354900.1:c.8143A>G | NP_001341829.1:p.Ile2715Val | |
| NM_001354901.1:c.8089A>G | NP_001341830.1:p.Ile2697Val | |
| NM_001354902.1:c.7993A>G | NP_001341831.1:p.Ile2665Val | |
| NM_001354903.1:c.7963A>G | NP_001341832.1:p.Ile2655Val | |
| NM_001354904.1:c.7888A>G | NP_001341833.1:p.Ile2630Val | |
| NM_001354905.1:c.7786A>G | NP_001341834.1:p.Ile2596Val | |
| NM_001354906.1:c.7417A>G | NP_001341835.1:p.Ile2473Val | |
| NM_000038.6:c.8266A>G MANE Select | NP_000029.2:p.Ile2756Val | |
| NM_001127510.3:c.8266A>G | NP_001120982.1:p.Ile2756Val | |
| NM_001127511.3:c.8212A>G | NP_001120983.2:p.Ile2738Val | |
| NM_001354895.2:c.8266A>G | NP_001341824.1:p.Ile2756Val | |
| NM_001354896.2:c.8320A>G | NP_001341825.1:p.Ile2774Val | |
| NM_001354897.2:c.8296A>G | NP_001341826.1:p.Ile2766Val | |
| NM_001354898.2:c.8191A>G | NP_001341827.1:p.Ile2731Val | |
| NM_001354899.2:c.8182A>G | NP_001341828.1:p.Ile2728Val | |
| NM_001354900.2:c.8143A>G | NP_001341829.1:p.Ile2715Val | |
| NM_001354901.2:c.8089A>G | NP_001341830.1:p.Ile2697Val | |
| NM_001354902.2:c.7993A>G | NP_001341831.1:p.Ile2665Val | |
| NM_001354903.2:c.7963A>G | NP_001341832.1:p.Ile2655Val | |
| NM_001354904.2:c.7888A>G | NP_001341833.1:p.Ile2630Val | |
| NM_001354905.2:c.7786A>G | NP_001341834.1:p.Ile2596Val | |
| NM_001354906.2:c.7417A>G | NP_001341835.1:p.Ile2473Val |