Linked Data
ClinVar Variation Id:
365032
dbSNP Id:
rs147734401
ExAC:
9:130259561 C / T
gnomAD v2:
9-130259561-C-T
gnomAD v3:
9-127497282-C-T
gnomAD v4:
9-127497282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127497282C>T , CM000671.2:g.127497282C>T | GRCh38 |
| NC_000009.11:g.130259561C>T , CM000671.1:g.130259561C>T | GRCh37 |
| NC_000009.10:g.129299382C>T | NCBI36 |
| NG_032008.1:g.50797C>T , LRG_373:g.50797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300417.11:c.1860C>T MANE Select | ENSP00000300417.6:p.His620= | |
| ENST00000472068.2:c.*1584C>T | ENSP00000501555.1:n.*1584C>T | |
| ENST00000483302.6:n.2525C>T | ||
| ENST00000498513.6:c.*751C>T | ENSP00000501637.1:n.*751C>T | |
| ENST00000674511.1:n.1459C>T | ||
| ENST00000674516.1:c.1860C>T | ENSP00000502441.1:p.His620= | |
| ENST00000674621.1:n.1860+1207C>T | ||
| ENST00000674771.1:c.*503C>T | ENSP00000502627.1:n.*503C>T | |
| ENST00000674784.1:c.*920C>T | ENSP00000501837.1:n.*920C>T | |
| ENST00000674970.1:c.*1634C>T | ENSP00000502493.1:n.*1634C>T | |
| ENST00000675012.1:n.1804C>T | ||
| ENST00000675141.1:c.1761C>T | ENSP00000502420.1:p.His587= | |
| ENST00000675198.1:n.1740C>T | ||
| ENST00000675213.1:c.1815C>T | ENSP00000502218.1:p.His605= | |
| ENST00000675224.1:c.1860C>T | ENSP00000501869.1:p.His620= | |
| ENST00000675253.1:c.*532C>T | ENSP00000502557.1:n.*532C>T | |
| ENST00000675445.1:c.*1532C>T | ENSP00000502253.1:n.*1532C>T | |
| ENST00000675448.1:c.1860C>T | ENSP00000502167.1:p.His620= | |
| ENST00000675521.1:n.1770C>T | ||
| ENST00000675572.1:c.1761C>T | ENSP00000501598.1:p.His587= | |
| ENST00000675641.1:c.*602C>T | ENSP00000501845.1:n.*602C>T | |
| ENST00000675657.1:c.*473C>T | ENSP00000502002.1:n.*473C>T | |
| ENST00000675662.1:n.1655C>T | ||
| ENST00000675789.1:c.1680C>T | ENSP00000501954.1:p.His560= | |
| ENST00000675883.1:c.1779C>T | ENSP00000501592.1:p.His593= | |
| ENST00000675945.1:c.*553+1187C>T | ENSP00000501835.1:n.*553+1187C>T | |
| ENST00000676014.1:c.1803C>T | ENSP00000502058.1:p.His601= | |
| ENST00000676035.1:n.1522C>T | ||
| ENST00000676106.1:n.1897C>T | ||
| ENST00000676137.1:n.1890C>T | ||
| ENST00000676170.1:c.1941C>T | ENSP00000502177.1:p.His647= | |
| ENST00000676318.1:c.*2690C>T | ENSP00000502300.1:n.*2690C>T | |
| ENST00000676336.1:c.*473C>T | ENSP00000502686.1:n.*473C>T | |
| ENST00000676349.1:c.*1548C>T | ENSP00000502155.1:n.*1548C>T | |
| ENST00000676399.1:n.1763C>T | ||
| ENST00000676409.1:n.1920C>T | ||
| ENST00000300417.10:c.1860C>T | ENSP00000300417.6:p.His620= | |
| ENST00000323301.8:c.1860C>T | ENSP00000322937.4:p.His620= | |
| ENST00000373322.1:c.1860C>T | ENSP00000362419.1:p.His620= | |
| ENST00000373324.8:c.1779C>T | ENSP00000362421.4:p.His593= | |
| ENST00000472068.1:n.753C>T | ||
| ENST00000483302.5:n.1082C>T | ||
| NM_001005373.3:c.1860C>T | NP_001005373.1:p.His620= | |
| NM_001005374.3:c.1860C>T | NP_001005374.1:p.His620= | |
| NM_001190723.2:c.1779C>T | NP_001177652.1:p.His593= | |
| NM_138361.5:c.1860C>T , LRG_373t1:c.1860C>T | NP_612370.3:p.His620= | |
| XM_006717316.2:c.1761C>T | XP_006717379.1:p.His587= | |
| XM_006717316.4:c.1761C>T | XP_006717379.1:p.His587= | |
| XM_017015283.1:c.1860C>T | XP_016870772.1:p.His620= | |
| XM_017015284.2:c.1071C>T | XP_016870773.1:p.His357= | |
| XR_001746415.2:n.2395C>T | ||
| XR_929874.3:n.2219C>T | ||
| NM_001190723.3:c.1779C>T | NP_001177652.1:p.His593= | |
| NM_001005373.4:c.1860C>T MANE Select | NP_001005373.1:p.His620= | |
| NM_001005374.4:c.1860C>T | NP_001005374.1:p.His620= | |
| NM_001384142.1:c.1860C>T | NP_001371071.1:p.His620= | |
| NM_001384143.1:c.1761C>T | NP_001371072.1:p.His587= | |
| NM_001384144.1:c.1071C>T | NP_001371073.1:p.His357= | |
| NR_168891.1:n.2389C>T | ||
| NR_168892.1:n.2213C>T |