Linked Data
ClinVar Variation Id:
540000
ClinVar RCV Id:
RCV000649914
dbSNP Id:
rs1554754342
gnomAD v4:
9-127461239-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127461239C>T , CM000671.2:g.127461239C>T | GRCh38 |
| NC_000009.11:g.130223518C>T , CM000671.1:g.130223518C>T | GRCh37 |
| NC_000009.10:g.129263339C>T | NCBI36 |
| NG_032008.1:g.14754C>T , LRG_373:g.14754C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.388C>T MANE Select | ENSP00000300417.6:p.Gln130Ter | |
| ENST00000472068.2:c.*116C>T | ENSP00000501555.1:n.*116C>T | |
| ENST00000498513.6:c.-360C>T | ENSP00000501637.1:n.-360C>T | |
| ENST00000674511.1:n.268C>T | ||
| ENST00000674516.1:c.388C>T | ENSP00000502441.1:p.Gln130Ter | |
| ENST00000674621.1:n.294C>T | ||
| ENST00000674771.1:c.388C>T | ENSP00000502627.1:p.Gln130Ter | |
| ENST00000674784.1:c.388C>T | ENSP00000501837.1:p.Gln130Ter | |
| ENST00000674970.1:c.*162C>T | ENSP00000502493.1:n.*162C>T | |
| ENST00000675012.1:n.268C>T | ||
| ENST00000675141.1:c.388C>T | ENSP00000502420.1:p.Gln130Ter | |
| ENST00000675198.1:n.290C>T | ||
| ENST00000675213.1:c.343C>T | ENSP00000502218.1:p.Gln115Ter | |
| ENST00000675224.1:c.388C>T | ENSP00000501869.1:p.Gln130Ter | |
| ENST00000675253.1:c.388C>T | ENSP00000502557.1:p.Gln130Ter | |
| ENST00000675364.1:n.127C>T | ||
| ENST00000675445.1:c.*60C>T | ENSP00000502253.1:n.*60C>T | |
| ENST00000675448.1:c.388C>T | ENSP00000502167.1:p.Gln130Ter | |
| ENST00000675521.1:n.240C>T | ||
| ENST00000675572.1:c.388C>T | ENSP00000501598.1:p.Gln130Ter | |
| ENST00000675641.1:c.388C>T | ENSP00000501845.1:p.Gln130Ter | |
| ENST00000675657.1:c.388C>T | ENSP00000502002.1:p.Gln130Ter | |
| ENST00000675662.1:n.281C>T | ||
| ENST00000675789.1:c.388C>T | ENSP00000501954.1:p.Gln130Ter | |
| ENST00000675883.1:c.388C>T | ENSP00000501592.1:p.Gln130Ter | |
| ENST00000675945.1:c.388C>T | ENSP00000501835.1:p.Gln130Ter | |
| ENST00000676014.1:c.331C>T | ENSP00000502058.1:p.Gln111Ter | |
| ENST00000676035.1:n.149C>T | ||
| ENST00000676106.1:n.193C>T | ||
| ENST00000676137.1:n.279C>T | ||
| ENST00000676170.1:c.388C>T | ENSP00000502177.1:p.Gln130Ter | |
| ENST00000676318.1:c.388C>T | ENSP00000502300.1:p.Gln130Ter | |
| ENST00000676336.1:c.388C>T | ENSP00000502686.1:p.Gln130Ter | |
| ENST00000676349.1:c.*162C>T | ENSP00000502155.1:n.*162C>T | |
| ENST00000676399.1:n.286C>T | ||
| ENST00000676409.1:n.267C>T | ||
| ENST00000300417.10:c.388C>T | ENSP00000300417.6:p.Gln130Ter | |
| ENST00000323301.8:c.388C>T | ENSP00000322937.4:p.Gln130Ter | |
| ENST00000373322.1:c.388C>T | ENSP00000362419.1:p.Gln130Ter | |
| ENST00000373324.8:c.388C>T | ENSP00000362421.4:p.Gln130Ter | |
| NM_001005373.3:c.388C>T | NP_001005373.1:p.Gln130Ter | |
| NM_001005374.3:c.388C>T | NP_001005374.1:p.Gln130Ter | |
| NM_001190723.2:c.388C>T | NP_001177652.1:p.Gln130Ter | |
| NM_138361.5:c.388C>T , LRG_373t1:c.388C>T | NP_612370.3:p.Gln130Ter | |
| XM_006717316.2:c.388C>T | XP_006717379.1:p.Gln130Ter | |
| XR_929874.1:n.760C>T | ||
| XM_006717316.4:c.388C>T | XP_006717379.1:p.Gln130Ter | |
| XM_017015283.1:c.388C>T | XP_016870772.1:p.Gln130Ter | |
| XM_017015284.2:c.-397C>T | XP_016870773.1:n.-397C>T | |
| XR_001746415.2:n.742C>T | ||
| XR_929874.3:n.742C>T | ||
| NM_001190723.3:c.388C>T | NP_001177652.1:p.Gln130Ter | |
| NM_001005373.4:c.388C>T MANE Select | NP_001005373.1:p.Gln130Ter | |
| NM_001005374.4:c.388C>T | NP_001005374.1:p.Gln130Ter | |
| NM_001384142.1:c.388C>T | NP_001371071.1:p.Gln130Ter | |
| NM_001384143.1:c.388C>T | NP_001371072.1:p.Gln130Ter | |
| NM_001384144.1:c.-397C>T | NP_001371073.1:n.-397C>T | |
| NR_168891.1:n.736C>T | ||
| NR_168892.1:n.736C>T |