Linked Data
ClinVar Variation Id:
365010
ClinVar RCV Id:
RCV000649924
dbSNP Id:
rs570248730
ExAC:
9:130221313 C / T
gnomAD v2:
9-130221313-C-T
gnomAD v3:
9-127459034-C-T
gnomAD v4:
9-127459034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127459034C>T , CM000671.2:g.127459034C>T | GRCh38 |
| NC_000009.11:g.130221313C>T , CM000671.1:g.130221313C>T | GRCh37 |
| NC_000009.10:g.129261134C>T | NCBI36 |
| NG_032008.1:g.12549C>T , LRG_373:g.12549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.284C>T MANE Select | ENSP00000300417.6:p.Ala95Val | |
| ENST00000472068.2:c.*12C>T | ENSP00000501555.1:n.*12C>T | |
| ENST00000498513.6:c.-464C>T | ENSP00000501637.1:n.-464C>T | |
| ENST00000674516.1:c.284C>T | ENSP00000502441.1:p.Ala95Val | |
| ENST00000674771.1:c.284C>T | ENSP00000502627.1:p.Ala95Val | |
| ENST00000674784.1:c.284C>T | ENSP00000501837.1:p.Ala95Val | |
| ENST00000674970.1:c.284C>T | ENSP00000502493.1:p.Ala95Val | |
| ENST00000675141.1:c.284C>T | ENSP00000502420.1:p.Ala95Val | |
| ENST00000675213.1:c.239C>T | ENSP00000502218.1:p.Ala80Val | |
| ENST00000675224.1:c.284C>T | ENSP00000501869.1:p.Ala95Val | |
| ENST00000675253.1:c.284C>T | ENSP00000502557.1:p.Ala95Val | |
| ENST00000675445.1:c.284C>T | ENSP00000502253.1:p.Ala95Val | |
| ENST00000675448.1:c.284C>T | ENSP00000502167.1:p.Ala95Val | |
| ENST00000675572.1:c.284C>T | ENSP00000501598.1:p.Ala95Val | |
| ENST00000675641.1:c.284C>T | ENSP00000501845.1:p.Ala95Val | |
| ENST00000675657.1:c.284C>T | ENSP00000502002.1:p.Ala95Val | |
| ENST00000675789.1:c.284C>T | ENSP00000501954.1:p.Ala95Val | |
| ENST00000675883.1:c.284C>T | ENSP00000501592.1:p.Ala95Val | |
| ENST00000675945.1:c.284C>T | ENSP00000501835.1:p.Ala95Val | |
| ENST00000676014.1:c.227C>T | ENSP00000502058.1:p.Ala76Val | |
| ENST00000676170.1:c.284C>T | ENSP00000502177.1:p.Ala95Val | |
| ENST00000676318.1:c.284C>T | ENSP00000502300.1:p.Ala95Val | |
| ENST00000676336.1:c.284C>T | ENSP00000502686.1:p.Ala95Val | |
| ENST00000676349.1:c.284C>T | ENSP00000502155.1:p.Ala95Val | |
| ENST00000300417.10:c.284C>T | ENSP00000300417.6:p.Ala95Val | |
| ENST00000323301.8:c.284C>T | ENSP00000322937.4:p.Ala95Val | |
| ENST00000373322.1:c.284C>T | ENSP00000362419.1:p.Ala95Val | |
| ENST00000373324.8:c.284C>T | ENSP00000362421.4:p.Ala95Val | |
| NM_001005373.3:c.284C>T | NP_001005373.1:p.Ala95Val | |
| NM_001005374.3:c.284C>T | NP_001005374.1:p.Ala95Val | |
| NM_001190723.2:c.284C>T | NP_001177652.1:p.Ala95Val | |
| NM_138361.5:c.284C>T , LRG_373t1:c.284C>T | NP_612370.3:p.Ala95Val | |
| XM_006717316.2:c.284C>T | XP_006717379.1:p.Ala95Val | |
| XR_929874.1:n.656C>T | ||
| XM_006717316.4:c.284C>T | XP_006717379.1:p.Ala95Val | |
| XM_017015283.1:c.284C>T | XP_016870772.1:p.Ala95Val | |
| XM_017015284.2:c.-501C>T | XP_016870773.1:n.-501C>T | |
| XR_001746415.2:n.638C>T | ||
| XR_929874.3:n.638C>T | ||
| NM_001190723.3:c.284C>T | NP_001177652.1:p.Ala95Val | |
| NM_001005373.4:c.284C>T MANE Select | NP_001005373.1:p.Ala95Val | |
| NM_001005374.4:c.284C>T | NP_001005374.1:p.Ala95Val | |
| NM_001384142.1:c.284C>T | NP_001371071.1:p.Ala95Val | |
| NM_001384143.1:c.284C>T | NP_001371072.1:p.Ala95Val | |
| NM_001384144.1:c.-501C>T | NP_001371073.1:n.-501C>T | |
| NR_168891.1:n.632C>T | ||
| NR_168892.1:n.632C>T |