Linked Data
ClinVar Variation Id:
472795
dbSNP Id:
rs150882646
ExAC:
9:130258261 C / A
gnomAD v2:
9-130258261-C-A
gnomAD v3:
9-127495982-C-A
gnomAD v4:
9-127495982-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127495982C>A , CM000671.2:g.127495982C>A | GRCh38 |
| NC_000009.11:g.130258261C>A , CM000671.1:g.130258261C>A | GRCh37 |
| NC_000009.10:g.129298082C>A | NCBI36 |
| NG_032008.1:g.49497C>A , LRG_373:g.49497C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1717C>A MANE Select | ENSP00000300417.6:p.Gln573Lys | |
| ENST00000472068.2:c.*1441C>A | ENSP00000501555.1:n.*1441C>A | |
| ENST00000483302.6:n.2382C>A | ||
| ENST00000498513.6:c.*608C>A | ENSP00000501637.1:n.*608C>A | |
| ENST00000674511.1:n.1316C>A | ||
| ENST00000674516.1:c.1717C>A | ENSP00000502441.1:p.Gln573Lys | |
| ENST00000674621.1:n.1767C>A | ||
| ENST00000674771.1:c.*360C>A | ENSP00000502627.1:n.*360C>A | |
| ENST00000674784.1:c.*777C>A | ENSP00000501837.1:n.*777C>A | |
| ENST00000674970.1:c.*1491C>A | ENSP00000502493.1:n.*1491C>A | |
| ENST00000675012.1:n.1661C>A | ||
| ENST00000675141.1:c.1618C>A | ENSP00000502420.1:p.Gln540Lys | |
| ENST00000675198.1:n.1597C>A | ||
| ENST00000675213.1:c.1672C>A | ENSP00000502218.1:p.Gln558Lys | |
| ENST00000675224.1:c.1717C>A | ENSP00000501869.1:p.Gln573Lys | |
| ENST00000675253.1:c.*389C>A | ENSP00000502557.1:n.*389C>A | |
| ENST00000675445.1:c.*1389C>A | ENSP00000502253.1:n.*1389C>A | |
| ENST00000675448.1:c.1717C>A | ENSP00000502167.1:p.Gln573Lys | |
| ENST00000675521.1:n.1627C>A | ||
| ENST00000675572.1:c.1618C>A | ENSP00000501598.1:p.Gln540Lys | |
| ENST00000675641.1:c.*459C>A | ENSP00000501845.1:n.*459C>A | |
| ENST00000675657.1:c.*330C>A | ENSP00000502002.1:n.*330C>A | |
| ENST00000675662.1:n.1512C>A | ||
| ENST00000675789.1:c.1537C>A | ENSP00000501954.1:p.Gln513Lys | |
| ENST00000675883.1:c.1636C>A | ENSP00000501592.1:p.Gln546Lys | |
| ENST00000675945.1:c.*440C>A | ENSP00000501835.1:n.*440C>A | |
| ENST00000676014.1:c.1660C>A | ENSP00000502058.1:p.Gln554Lys | |
| ENST00000676035.1:n.1379C>A | ||
| ENST00000676106.1:n.1754C>A | ||
| ENST00000676137.1:n.1747C>A | ||
| ENST00000676170.1:c.1798C>A | ENSP00000502177.1:p.Gln600Lys | |
| ENST00000676318.1:c.*2547C>A | ENSP00000502300.1:n.*2547C>A | |
| ENST00000676336.1:c.*330C>A | ENSP00000502686.1:n.*330C>A | |
| ENST00000676349.1:c.*1405C>A | ENSP00000502155.1:n.*1405C>A | |
| ENST00000676399.1:n.1620C>A | ||
| ENST00000676409.1:n.1777C>A | ||
| ENST00000300417.10:c.1717C>A | ENSP00000300417.6:p.Gln573Lys | |
| ENST00000323301.8:c.1717C>A | ENSP00000322937.4:p.Gln573Lys | |
| ENST00000373322.1:c.1717C>A | ENSP00000362419.1:p.Gln573Lys | |
| ENST00000373324.8:c.1636C>A | ENSP00000362421.4:p.Gln546Lys | |
| ENST00000472068.1:n.610C>A | ||
| ENST00000483302.5:n.939C>A | ||
| NM_001005373.3:c.1717C>A | NP_001005373.1:p.Gln573Lys | |
| NM_001005374.3:c.1717C>A | NP_001005374.1:p.Gln573Lys | |
| NM_001190723.2:c.1636C>A | NP_001177652.1:p.Gln546Lys | |
| NM_138361.5:c.1717C>A , LRG_373t1:c.1717C>A | NP_612370.3:p.Gln573Lys | |
| XM_006717316.2:c.1618C>A | XP_006717379.1:p.Gln540Lys | |
| XM_006717316.4:c.1618C>A | XP_006717379.1:p.Gln540Lys | |
| XM_017015283.1:c.1717C>A | XP_016870772.1:p.Gln573Lys | |
| XM_017015284.2:c.928C>A | XP_016870773.1:p.Gln310Lys | |
| XR_001746415.2:n.2252C>A | ||
| XR_929874.3:n.2076C>A | ||
| NM_001190723.3:c.1636C>A | NP_001177652.1:p.Gln546Lys | |
| NM_001005373.4:c.1717C>A MANE Select | NP_001005373.1:p.Gln573Lys | |
| NM_001005374.4:c.1717C>A | NP_001005374.1:p.Gln573Lys | |
| NM_001384142.1:c.1717C>A | NP_001371071.1:p.Gln573Lys | |
| NM_001384143.1:c.1618C>A | NP_001371072.1:p.Gln540Lys | |
| NM_001384144.1:c.928C>A | NP_001371073.1:p.Gln310Lys | |
| NR_168891.1:n.2246C>A | ||
| NR_168892.1:n.2070C>A |