Linked Data
ClinVar Variation Id:
408267
ClinVar RCV Id:
RCV000468628
dbSNP Id:
rs759312530
ExAC:
9:130265086 T / C
gnomAD v2:
9-130265086-T-C
gnomAD v4:
9-127502807-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127502807T>C , CM000671.2:g.127502807T>C | GRCh38 |
| NC_000009.11:g.130265086T>C , CM000671.1:g.130265086T>C | GRCh37 |
| NC_000009.10:g.129304907T>C | NCBI36 |
| NG_032008.1:g.56322T>C , LRG_373:g.56322T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.2080T>C MANE Select | ENSP00000300417.6:p.Cys694Arg | |
| ENST00000483302.6:n.2745T>C | ||
| ENST00000498513.6:c.*971T>C | ENSP00000501637.1:n.*971T>C | |
| ENST00000674511.1:n.1679T>C | ||
| ENST00000674516.1:c.*696T>C | ENSP00000502441.1:n.*696T>C | |
| ENST00000674621.1:n.1861-566T>C | ||
| ENST00000674771.1:c.*723T>C | ENSP00000502627.1:n.*723T>C | |
| ENST00000674784.1:c.*1140T>C | ENSP00000501837.1:n.*1140T>C | |
| ENST00000674970.1:c.*1854T>C | ENSP00000502493.1:n.*1854T>C | |
| ENST00000675012.1:n.2024T>C | ||
| ENST00000675141.1:c.1981T>C | ENSP00000502420.1:p.Cys661Arg | |
| ENST00000675198.1:n.1960T>C | ||
| ENST00000675213.1:c.2035T>C | ENSP00000502218.1:p.Cys679Arg | |
| ENST00000675224.1:c.*146T>C | ENSP00000501869.1:n.*146T>C | |
| ENST00000675253.1:c.*752T>C | ENSP00000502557.1:n.*752T>C | |
| ENST00000675445.1:c.*1752T>C | ENSP00000502253.1:n.*1752T>C | |
| ENST00000675448.1:c.2080T>C | ENSP00000502167.1:p.Cys694Arg | |
| ENST00000675521.1:n.1990T>C | ||
| ENST00000675572.1:c.1981T>C | ENSP00000501598.1:p.Cys661Arg | |
| ENST00000675641.1:c.*822T>C | ENSP00000501845.1:n.*822T>C | |
| ENST00000675657.1:c.*693T>C | ENSP00000502002.1:n.*693T>C | |
| ENST00000675662.1:n.1875T>C | ||
| ENST00000675789.1:c.1900T>C | ENSP00000501954.1:p.Cys634Arg | |
| ENST00000675883.1:c.1999T>C | ENSP00000501592.1:p.Cys667Arg | |
| ENST00000675945.1:c.*721T>C | ENSP00000501835.1:n.*721T>C | |
| ENST00000676014.1:c.2023T>C | ENSP00000502058.1:p.Cys675Arg | |
| ENST00000676035.1:n.1742T>C | ||
| ENST00000676106.1:n.2117T>C | ||
| ENST00000676137.1:n.2110T>C | ||
| ENST00000676170.1:c.2161T>C | ENSP00000502177.1:p.Cys721Arg | |
| ENST00000676318.1:c.*2910T>C | ENSP00000502300.1:n.*2910T>C | |
| ENST00000676336.1:c.*693T>C | ENSP00000502686.1:n.*693T>C | |
| ENST00000676349.1:c.*1768T>C | ENSP00000502155.1:n.*1768T>C | |
| ENST00000676399.1:n.1983T>C | ||
| ENST00000676409.1:n.2140T>C | ||
| ENST00000300417.10:c.2080T>C | ENSP00000300417.6:p.Cys694Arg | |
| ENST00000323301.8:c.2080T>C | ENSP00000322937.4:p.Cys694Arg | |
| ENST00000373322.1:c.2080T>C | ENSP00000362419.1:p.Cys694Arg | |
| ENST00000373324.8:c.1999T>C | ENSP00000362421.4:p.Cys667Arg | |
| ENST00000483302.5:n.1302T>C | ||
| NM_001005373.3:c.2080T>C | NP_001005373.1:p.Cys694Arg | |
| NM_001005374.3:c.2080T>C | NP_001005374.1:p.Cys694Arg | |
| NM_001190723.2:c.1999T>C | NP_001177652.1:p.Cys667Arg | |
| NM_138361.5:c.2080T>C , LRG_373t1:c.2080T>C | NP_612370.3:p.Cys694Arg | |
| XM_006717316.2:c.1981T>C | XP_006717379.1:p.Cys661Arg | |
| XM_006717316.4:c.1981T>C | XP_006717379.1:p.Cys661Arg | |
| XM_017015283.1:c.2080T>C | XP_016870772.1:p.Cys694Arg | |
| XM_017015284.2:c.1291T>C | XP_016870773.1:p.Cys431Arg | |
| XR_001746415.2:n.2615T>C | ||
| XR_929874.3:n.2439T>C | ||
| NM_001190723.3:c.1999T>C | NP_001177652.1:p.Cys667Arg | |
| NM_001005373.4:c.2080T>C MANE Select | NP_001005373.1:p.Cys694Arg | |
| NM_001005374.4:c.2080T>C | NP_001005374.1:p.Cys694Arg | |
| NM_001384142.1:c.2080T>C | NP_001371071.1:p.Cys694Arg | |
| NM_001384143.1:c.1981T>C | NP_001371072.1:p.Cys661Arg | |
| NM_001384144.1:c.1291T>C | NP_001371073.1:p.Cys431Arg | |
| NR_168891.1:n.2609T>C | ||
| NR_168892.1:n.2433T>C |