Linked Data
ClinVar Variation Id:
245712
ClinVar RCV Id:
RCV003650548
dbSNP Id:
rs763578917
ExAC:
5:112175960 A / G
gnomAD v2:
5-112175960-A-G
gnomAD v3:
5-112840263-A-G
gnomAD v4:
5-112840263-A-G
COSMIC:
COSM6191504
PubMed:
PMID:26378065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840263A>G , CM000667.2:g.112840263A>G | GRCh38 |
| NC_000005.9:g.112175960A>G , CM000667.1:g.112175960A>G | GRCh37 |
| NC_000005.8:g.112203859A>G | NCBI36 |
| NG_008481.4:g.152743A>G , LRG_130:g.152743A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.4723A>G | ENSP00000473355.2:p.Ile1575Val | |
| ENST00000505350.2:c.*4675A>G | ENSP00000481752.1:n.*4675A>G | |
| ENST00000507379.6:c.4615A>G | ENSP00000423224.2:p.Ile1539Val | |
| ENST00000509732.6:c.4669A>G | ENSP00000426541.2:p.Ile1557Val | |
| ENST00000512211.7:c.4669A>G | ENSP00000423828.3:p.Ile1557Val | |
| ENST00000257430.9:c.4669A>G MANE Select | ENSP00000257430.4:p.Ile1557Val | |
| ENST00000257430.8:c.4669A>G | ENSP00000257430.4:p.Ile1557Val | |
| ENST00000508376.6:c.4669A>G | ENSP00000427089.2:p.Ile1557Val | |
| ENST00000508624.5:c.*3991A>G | ENSP00000424265.1:n.*3991A>G | |
| ENST00000520401.1:c.230+11291A>G | ||
| NM_000038.5:c.4669A>G | NP_000029.2:p.Ile1557Val | |
| NM_001127510.2:c.4669A>G | NP_001120982.1:p.Ile1557Val | |
| NM_001127511.2:c.4615A>G | NP_001120983.2:p.Ile1539Val | |
| NM_001354895.1:c.4669A>G | NP_001341824.1:p.Ile1557Val | |
| NM_001354896.1:c.4723A>G | NP_001341825.1:p.Ile1575Val | |
| NM_001354897.1:c.4699A>G | NP_001341826.1:p.Ile1567Val | |
| NM_001354898.1:c.4594A>G | NP_001341827.1:p.Ile1532Val | |
| NM_001354899.1:c.4585A>G | NP_001341828.1:p.Ile1529Val | |
| NM_001354900.1:c.4546A>G | NP_001341829.1:p.Ile1516Val | |
| NM_001354901.1:c.4492A>G | NP_001341830.1:p.Ile1498Val | |
| NM_001354902.1:c.4396A>G | NP_001341831.1:p.Ile1466Val | |
| NM_001354903.1:c.4366A>G | NP_001341832.1:p.Ile1456Val | |
| NM_001354904.1:c.4291A>G | NP_001341833.1:p.Ile1431Val | |
| NM_001354905.1:c.4189A>G | NP_001341834.1:p.Ile1397Val | |
| NM_001354906.1:c.3820A>G | NP_001341835.1:p.Ile1274Val | |
| NM_000038.6:c.4669A>G MANE Select | NP_000029.2:p.Ile1557Val | |
| NM_001127510.3:c.4669A>G | NP_001120982.1:p.Ile1557Val | |
| NM_001127511.3:c.4615A>G | NP_001120983.2:p.Ile1539Val | |
| NM_001354895.2:c.4669A>G | NP_001341824.1:p.Ile1557Val | |
| NM_001354896.2:c.4723A>G | NP_001341825.1:p.Ile1575Val | |
| NM_001354897.2:c.4699A>G | NP_001341826.1:p.Ile1567Val | |
| NM_001354898.2:c.4594A>G | NP_001341827.1:p.Ile1532Val | |
| NM_001354899.2:c.4585A>G | NP_001341828.1:p.Ile1529Val | |
| NM_001354900.2:c.4546A>G | NP_001341829.1:p.Ile1516Val | |
| NM_001354901.2:c.4492A>G | NP_001341830.1:p.Ile1498Val | |
| NM_001354902.2:c.4396A>G | NP_001341831.1:p.Ile1466Val | |
| NM_001354903.2:c.4366A>G | NP_001341832.1:p.Ile1456Val | |
| NM_001354904.2:c.4291A>G | NP_001341833.1:p.Ile1431Val | |
| NM_001354905.2:c.4189A>G | NP_001341834.1:p.Ile1397Val | |
| NM_001354906.2:c.3820A>G | NP_001341835.1:p.Ile1274Val |