Linked Data
ClinVar Variation Id:
487810
ClinVar RCV Id:
RCV000577841
dbSNP Id:
rs1555424877
PubMed:
PMID:29440180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31068089T>G , CM000677.2:g.31068089T>G | GRCh38 |
| NC_000015.9:g.31360292T>G , CM000677.1:g.31360292T>G | GRCh37 |
| NC_000015.8:g.29147584T>G | NCBI36 |
| NG_016453.1:g.38633A>C | |
| NG_016453.2:g.98185A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.217A>C | ENSP00000518752.1:p.Ile73Leu | |
| ENST00000397795.7:c.217A>C | ENSP00000380897.2:p.Ile73Leu | |
| ENST00000558445.6:c.334A>C | ENSP00000452946.2:p.Ile112Leu | |
| ENST00000559177.6:c.334A>C | ENSP00000453477.2:p.Ile112Leu | |
| ENST00000256552.11:c.283A>C MANE Select | ENSP00000256552.7:p.Ile95Leu | |
| ENST00000256552.10:c.283A>C | ENSP00000256552.6:p.Ile95Leu | |
| ENST00000397795.6:c.217A>C | ENSP00000380897.2:p.Ile73Leu | |
| ENST00000542188.5:c.334A>C | ENSP00000437849.1:p.Ile112Leu | |
| ENST00000558445.5:c.217A>C | ENSP00000452946.1:p.Ile73Leu | |
| ENST00000558768.5:c.4A>C | ENSP00000453119.2:p.Ile2Leu | |
| ENST00000559177.5:c.217A>C | ENSP00000453477.1:p.Ile73Leu | |
| ENST00000560658.5:c.217A>C | ENSP00000454077.1:p.Ile73Leu | |
| ENST00000560801.5:c.4A>C | ENSP00000453644.2:p.Ile2Leu | |
| NM_001252020.1:c.334A>C | NP_001238949.1:p.Ile112Leu | |
| NM_001252024.1:c.283A>C | NP_001238953.1:p.Ile95Leu | |
| NM_002420.5:c.217A>C | NP_002411.3:p.Ile73Leu | |
| NM_001252024.2:c.283A>C MANE Select | NP_001238953.1:p.Ile95Leu | |
| NM_002420.6:c.217A>C | NP_002411.3:p.Ile73Leu | |
| NM_001252020.2:c.334A>C | NP_001238949.1:p.Ile112Leu |