Linked Data
ClinVar Variation Id:
245886
dbSNP Id:
rs146106537
ExAC:
9:130255091 C / T
gnomAD v2:
9-130255091-C-T
gnomAD v3:
9-127492812-C-T
gnomAD v4:
9-127492812-C-T
COSMIC:
COSM1105328
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127492812C>T , CM000671.2:g.127492812C>T | GRCh38 |
| NC_000009.11:g.130255091C>T , CM000671.1:g.130255091C>T | GRCh37 |
| NC_000009.10:g.129294912C>T | NCBI36 |
| NG_032008.1:g.46327C>T , LRG_373:g.46327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1514C>T MANE Select | ENSP00000300417.6:p.Ser505Leu | |
| ENST00000472068.2:c.*1242C>T | ENSP00000501555.1:n.*1242C>T | |
| ENST00000483302.6:n.311C>T | ||
| ENST00000498513.6:c.*405C>T | ENSP00000501637.1:n.*405C>T | |
| ENST00000674511.1:n.1298-3152C>T | ||
| ENST00000674516.1:c.1514C>T | ENSP00000502441.1:p.Ser505Leu | |
| ENST00000674621.1:n.1564C>T | ||
| ENST00000674771.1:c.*256C>T | ENSP00000502627.1:n.*256C>T | |
| ENST00000674784.1:c.*673C>T | ENSP00000501837.1:n.*673C>T | |
| ENST00000674970.1:c.*1288C>T | ENSP00000502493.1:n.*1288C>T | |
| ENST00000675012.1:n.1458C>T | ||
| ENST00000675141.1:c.1514C>T | ENSP00000502420.1:p.Ser505Leu | |
| ENST00000675198.1:n.1394C>T | ||
| ENST00000675213.1:c.1469C>T | ENSP00000502218.1:p.Ser490Leu | |
| ENST00000675224.1:c.1514C>T | ENSP00000501869.1:p.Ser505Leu | |
| ENST00000675253.1:c.*285C>T | ENSP00000502557.1:n.*285C>T | |
| ENST00000675445.1:c.*1186C>T | ENSP00000502253.1:n.*1186C>T | |
| ENST00000675448.1:c.1514C>T | ENSP00000502167.1:p.Ser505Leu | |
| ENST00000675521.1:n.1424C>T | ||
| ENST00000675572.1:c.1514C>T | ENSP00000501598.1:p.Ser505Leu | |
| ENST00000675641.1:c.*256C>T | ENSP00000501845.1:n.*256C>T | |
| ENST00000675657.1:c.*127C>T | ENSP00000502002.1:n.*127C>T | |
| ENST00000675662.1:n.1309C>T | ||
| ENST00000675789.1:c.1433C>T | ENSP00000501954.1:p.Ser478Leu | |
| ENST00000675883.1:c.1433C>T | ENSP00000501592.1:p.Ser478Leu | |
| ENST00000675945.1:c.*336C>T | ENSP00000501835.1:n.*336C>T | |
| ENST00000676014.1:c.1457C>T | ENSP00000502058.1:p.Ser486Leu | |
| ENST00000676035.1:n.1275C>T | ||
| ENST00000676106.1:n.1319C>T | ||
| ENST00000676137.1:n.1544C>T | ||
| ENST00000676170.1:c.1595C>T | ENSP00000502177.1:p.Ser532Leu | |
| ENST00000676318.1:c.*256C>T | ENSP00000502300.1:n.*256C>T | |
| ENST00000676336.1:c.*127C>T | ENSP00000502686.1:n.*127C>T | |
| ENST00000676349.1:c.*1202C>T | ENSP00000502155.1:n.*1202C>T | |
| ENST00000676399.1:n.1417C>T | ||
| ENST00000676409.1:n.1574C>T | ||
| ENST00000300417.10:c.1514C>T | ENSP00000300417.6:p.Ser505Leu | |
| ENST00000323301.8:c.1514C>T | ENSP00000322937.4:p.Ser505Leu | |
| ENST00000373322.1:c.1514C>T | ENSP00000362419.1:p.Ser505Leu | |
| ENST00000373324.8:c.1433C>T | ENSP00000362421.4:p.Ser478Leu | |
| ENST00000472068.1:n.506C>T | ||
| ENST00000483302.5:n.736C>T | ||
| NM_001005373.3:c.1514C>T | NP_001005373.1:p.Ser505Leu | |
| NM_001005374.3:c.1514C>T | NP_001005374.1:p.Ser505Leu | |
| NM_001190723.2:c.1433C>T | NP_001177652.1:p.Ser478Leu | |
| NM_138361.5:c.1514C>T , LRG_373t1:c.1514C>T | NP_612370.3:p.Ser505Leu | |
| XM_006717316.2:c.1514C>T | XP_006717379.1:p.Ser505Leu | |
| XM_006717316.4:c.1514C>T | XP_006717379.1:p.Ser505Leu | |
| XM_017015283.1:c.1514C>T | XP_016870772.1:p.Ser505Leu | |
| XM_017015284.2:c.725C>T | XP_016870773.1:p.Ser242Leu | |
| XR_001746415.2:n.2049C>T | ||
| XR_929874.3:n.1873C>T | ||
| NM_001190723.3:c.1433C>T | NP_001177652.1:p.Ser478Leu | |
| NM_001005373.4:c.1514C>T MANE Select | NP_001005373.1:p.Ser505Leu | |
| NM_001005374.4:c.1514C>T | NP_001005374.1:p.Ser505Leu | |
| NM_001384142.1:c.1514C>T | NP_001371071.1:p.Ser505Leu | |
| NM_001384143.1:c.1514C>T | NP_001371072.1:p.Ser505Leu | |
| NM_001384144.1:c.725C>T | NP_001371073.1:p.Ser242Leu | |
| NR_168891.1:n.2043C>T | ||
| NR_168892.1:n.1867C>T |