Linked Data
ClinVar Variation Id:
203692
dbSNP Id:
rs141200145
ExAC:
15:76523730 T / G
gnomAD v2:
15-76523730-T-G
gnomAD v3:
15-76231389-T-G
gnomAD v4:
15-76231389-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76231389T>G , CM000677.2:g.76231389T>G | GRCh38 |
| NC_000015.9:g.76523730T>G , CM000677.1:g.76523730T>G | GRCh37 |
| NC_000015.8:g.74310785T>G | NCBI36 |
| NG_007077.2:g.85081A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.*18A>C | ENSP00000452777.2:n.*18A>C | |
| ENST00000560044.6:c.*821A>C | ENSP00000452942.1:n.*821A>C | |
| ENST00000560595.6:c.1045A>C | ENSP00000453345.2:p.Ile349Leu | |
| ENST00000565910.6:c.826A>C | ENSP00000458001.2:p.Ile276Leu | |
| ENST00000685118.1:c.*821A>C | ENSP00000509473.1:n.*821A>C | |
| ENST00000685548.1:c.826A>C | ENSP00000510343.1:p.Ile276Leu | |
| ENST00000685863.1:c.610A>C | ENSP00000509361.1:p.Ile204Leu | |
| ENST00000687293.1:c.901A>C | ENSP00000509928.1:p.Ile301Leu | |
| ENST00000687975.1:c.*702A>C | ENSP00000508690.1:n.*702A>C | |
| ENST00000688154.1:c.826A>C | ENSP00000510637.1:p.Ile276Leu | |
| ENST00000688389.1:c.757A>C | ENSP00000510491.1:p.Ile253Leu | |
| ENST00000688637.1:n.907A>C | ||
| ENST00000688908.1:c.661A>C | ENSP00000510242.1:p.Ile221Leu | |
| ENST00000689730.1:c.808A>C | ENSP00000510006.1:p.Ile270Leu | |
| ENST00000689739.1:n.838A>C | ||
| ENST00000690610.1:c.826A>C | ENSP00000510473.1:p.Ile276Leu | |
| ENST00000691021.1:c.*821A>C | ENSP00000510805.1:n.*821A>C | |
| ENST00000691071.1:n.605A>C | ||
| ENST00000691695.1:c.*18A>C | ENSP00000509402.1:n.*18A>C | |
| ENST00000692691.1:c.949A>C | ENSP00000508808.1:p.Ile317Leu | |
| ENST00000693064.1:c.*801A>C | ENSP00000510720.1:n.*801A>C | |
| ENST00000557943.6:c.826A>C MANE Select | ENSP00000452762.1:p.Ile276Leu | |
| ENST00000267950.12:c.*549A>C | ENSP00000267950.8:n.*549A>C | |
| ENST00000433983.6:c.679A>C | ENSP00000399273.2:p.Ile227Leu | |
| ENST00000557943.5:c.826A>C | ENSP00000452762.1:p.Ile276Leu | |
| ENST00000559075.5:n.850A>C | ||
| ENST00000559602.5:c.514A>C | ENSP00000452659.1:p.Ile172Leu | |
| ENST00000559973.5:c.536A>C | ||
| ENST00000560044.5:c.*821A>C | ENSP00000452942.1:n.*821A>C | |
| ENST00000560595.5:c.757A>C | ENSP00000453345.1:p.Ile253Leu | |
| ENST00000560726.5:c.46A>C | ENSP00000453098.1:p.Ile16Leu | |
| ENST00000560899.5:c.46A>C | ENSP00000453422.1:p.Ile16Leu | |
| ENST00000565910.5:c.10A>C | ENSP00000458001.1:p.Ile4Leu | |
| NM_000126.3:c.826A>C | NP_000117.1:p.Ile276Leu | |
| NM_001127716.1:c.679A>C | NP_001121188.1:p.Ile227Leu | |
| XR_931766.1:n.881A>C | ||
| XR_931766.3:n.907A>C | ||
| NM_000126.4:c.826A>C MANE Select | NP_000117.1:p.Ile276Leu | |
| NM_001127716.2:c.679A>C | NP_001121188.1:p.Ile227Leu |