Linked Data
ClinVar Variation Id:
408268
dbSNP Id:
rs765956865
ExAC:
9:130265068 C / A
gnomAD v2:
9-130265068-C-A
gnomAD v3:
9-127502789-C-A
gnomAD v4:
9-127502789-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127502789C>A , CM000671.2:g.127502789C>A | GRCh38 |
| NC_000009.11:g.130265068C>A , CM000671.1:g.130265068C>A | GRCh37 |
| NC_000009.10:g.129304889C>A | NCBI36 |
| NG_032008.1:g.56304C>A , LRG_373:g.56304C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.2062C>A MANE Select | ENSP00000300417.6:p.Leu688Ile | |
| ENST00000483302.6:n.2727C>A | ||
| ENST00000498513.6:c.*953C>A | ENSP00000501637.1:n.*953C>A | |
| ENST00000674511.1:n.1661C>A | ||
| ENST00000674516.1:c.*678C>A | ENSP00000502441.1:n.*678C>A | |
| ENST00000674621.1:n.1861-584C>A | ||
| ENST00000674771.1:c.*705C>A | ENSP00000502627.1:n.*705C>A | |
| ENST00000674784.1:c.*1122C>A | ENSP00000501837.1:n.*1122C>A | |
| ENST00000674970.1:c.*1836C>A | ENSP00000502493.1:n.*1836C>A | |
| ENST00000675012.1:n.2006C>A | ||
| ENST00000675141.1:c.1963C>A | ENSP00000502420.1:p.Leu655Ile | |
| ENST00000675198.1:n.1942C>A | ||
| ENST00000675213.1:c.2017C>A | ENSP00000502218.1:p.Leu673Ile | |
| ENST00000675224.1:c.*128C>A | ENSP00000501869.1:n.*128C>A | |
| ENST00000675253.1:c.*734C>A | ENSP00000502557.1:n.*734C>A | |
| ENST00000675445.1:c.*1734C>A | ENSP00000502253.1:n.*1734C>A | |
| ENST00000675448.1:c.2062C>A | ENSP00000502167.1:p.Leu688Ile | |
| ENST00000675521.1:n.1972C>A | ||
| ENST00000675572.1:c.1963C>A | ENSP00000501598.1:p.Leu655Ile | |
| ENST00000675641.1:c.*804C>A | ENSP00000501845.1:n.*804C>A | |
| ENST00000675657.1:c.*675C>A | ENSP00000502002.1:n.*675C>A | |
| ENST00000675662.1:n.1857C>A | ||
| ENST00000675789.1:c.1882C>A | ENSP00000501954.1:p.Leu628Ile | |
| ENST00000675883.1:c.1981C>A | ENSP00000501592.1:p.Leu661Ile | |
| ENST00000675945.1:c.*703C>A | ENSP00000501835.1:n.*703C>A | |
| ENST00000676014.1:c.2005C>A | ENSP00000502058.1:p.Leu669Ile | |
| ENST00000676035.1:n.1724C>A | ||
| ENST00000676106.1:n.2099C>A | ||
| ENST00000676137.1:n.2092C>A | ||
| ENST00000676170.1:c.2143C>A | ENSP00000502177.1:p.Leu715Ile | |
| ENST00000676318.1:c.*2892C>A | ENSP00000502300.1:n.*2892C>A | |
| ENST00000676336.1:c.*675C>A | ENSP00000502686.1:n.*675C>A | |
| ENST00000676349.1:c.*1750C>A | ENSP00000502155.1:n.*1750C>A | |
| ENST00000676399.1:n.1965C>A | ||
| ENST00000676409.1:n.2122C>A | ||
| ENST00000300417.10:c.2062C>A | ENSP00000300417.6:p.Leu688Ile | |
| ENST00000323301.8:c.2062C>A | ENSP00000322937.4:p.Leu688Ile | |
| ENST00000373322.1:c.2062C>A | ENSP00000362419.1:p.Leu688Ile | |
| ENST00000373324.8:c.1981C>A | ENSP00000362421.4:p.Leu661Ile | |
| ENST00000483302.5:n.1284C>A | ||
| NM_001005373.3:c.2062C>A | NP_001005373.1:p.Leu688Ile | |
| NM_001005374.3:c.2062C>A | NP_001005374.1:p.Leu688Ile | |
| NM_001190723.2:c.1981C>A | NP_001177652.1:p.Leu661Ile | |
| NM_138361.5:c.2062C>A , LRG_373t1:c.2062C>A | NP_612370.3:p.Leu688Ile | |
| XM_006717316.2:c.1963C>A | XP_006717379.1:p.Leu655Ile | |
| XM_006717316.4:c.1963C>A | XP_006717379.1:p.Leu655Ile | |
| XM_017015283.1:c.2062C>A | XP_016870772.1:p.Leu688Ile | |
| XM_017015284.2:c.1273C>A | XP_016870773.1:p.Leu425Ile | |
| XR_001746415.2:n.2597C>A | ||
| XR_929874.3:n.2421C>A | ||
| NM_001190723.3:c.1981C>A | NP_001177652.1:p.Leu661Ile | |
| NM_001005373.4:c.2062C>A MANE Select | NP_001005373.1:p.Leu688Ile | |
| NM_001005374.4:c.2062C>A | NP_001005374.1:p.Leu688Ile | |
| NM_001384142.1:c.2062C>A | NP_001371071.1:p.Leu688Ile | |
| NM_001384143.1:c.1963C>A | NP_001371072.1:p.Leu655Ile | |
| NM_001384144.1:c.1273C>A | NP_001371073.1:p.Leu425Ile | |
| NR_168891.1:n.2591C>A | ||
| NR_168892.1:n.2415C>A |