Linked Data
ClinVar Variation Id:
218317
dbSNP Id:
rs375761361
ExAC:
22:41923953 C / T
gnomAD v2:
22-41923953-C-T
gnomAD v3:
22-41527949-C-T
gnomAD v4:
22-41527949-C-T
COSMIC:
COSM4104491
PubMed:
PMID:24088041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41527949C>T , CM000684.2:g.41527949C>T | GRCh38 |
| NC_000022.10:g.41923953C>T , CM000684.1:g.41923953C>T | GRCh37 |
| NC_000022.9:g.40253899C>T | NCBI36 |
| NG_032143.1:g.63825C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216254.9:c.2135C>T (ACO2) MANE Select | ENSP00000216254.4:p.Pro712Leu | |
| ENST00000355209.9:c.*1334G>A (POLR3H) MANE Select | ENSP00000347345.4:n.*1334G>A | |
| ENST00000676664.1:c.2198C>T (ACO2) | ENSP00000503709.1:n.2198C>T | |
| ENST00000676714.1:c.*2053C>T (ACO2) | ENSP00000504699.1:n.*2053C>T | |
| ENST00000676748.1:c.2036C>T (ACO2) | ENSP00000503371.1:p.Pro679Leu | |
| ENST00000676792.1:c.1970C>T (ACO2) | ENSP00000503590.1:p.Pro657Leu | |
| ENST00000676822.1:n.2383C>T (ACO2) | ||
| ENST00000676883.1:n.2154C>T (ACO2) | ||
| ENST00000676959.1:c.*592C>T (ACO2) | ENSP00000504377.1:n.*592C>T | |
| ENST00000677007.1:c.*910C>T (ACO2) | ENSP00000504634.1:n.*910C>T | |
| ENST00000677153.1:c.2036C>T (ACO2) | ENSP00000504453.1:p.Pro679Leu | |
| ENST00000677492.1:n.3094C>T (ACO2) | ||
| ENST00000677516.1:c.*1534C>T (ACO2) | ENSP00000503370.1:n.*1534C>T | |
| ENST00000677532.1:c.2159C>T (ACO2) | ENSP00000503471.1:p.Pro720Leu | |
| ENST00000677554.1:c.1943C>T (ACO2) | ENSP00000504513.1:p.Pro648Leu | |
| ENST00000677698.1:c.2508C>T (ACO2) | ||
| ENST00000678269.1:c.2210C>T (ACO2) | ENSP00000504150.1:p.Pro737Leu | |
| ENST00000678394.1:n.2850C>T (ACO2) | ||
| ENST00000678600.1:n.2656C>T (ACO2) | ||
| ENST00000678688.1:c.*1371C>T (ACO2) | ENSP00000503990.1:n.*1371C>T | |
| ENST00000678788.1:c.2120C>T (ACO2) | ENSP00000504684.1:p.Pro707Leu | |
| ENST00000678819.1:c.*1998C>T (ACO2) | ENSP00000503199.1:n.*1998C>T | |
| ENST00000679264.1:n.3116C>T (ACO2) | ||
| ENST00000679284.1:n.2028C>T (ACO2) | ||
| ENST00000679311.1:n.2382C>T (ACO2) | ||
| ENST00000679320.1:c.*3C>T (ACO2) | ENSP00000504780.1:n.*3C>T | |
| ENST00000216254.8:c.2135C>T (ACO2) | ENSP00000216254.4:p.Pro712Leu | |
| ENST00000355209.8:c.*1334G>A (POLR3H) | ENSP00000347345.4:n.*1334G>A | |
| ENST00000396504.6:c.*1334G>A (POLR3H) | ENSP00000379761.2:n.*1334G>A | |
| ENST00000396512.3:c.2210C>T (ACO2) | ENSP00000379769.3:p.Pro737Leu | |
| NM_001018050.3:c.*1334G>A (POLR3H) | NP_001018060.1:n.*1334G>A | |
| NM_001018052.3:c.*1334G>A (POLR3H) | NP_001018062.1:n.*1334G>A | |
| NM_001098.2:c.2135C>T (ACO2) | NP_001089.1:p.Pro712Leu | |
| NM_001282884.1:c.*1334G>A (POLR3H) | NP_001269813.1:n.*1334G>A | |
| NM_001282885.1:c.*1334G>A (POLR3H) | NP_001269814.1:n.*1334G>A | |
| NM_138338.4:c.*1334G>A (POLR3H) | NP_612211.1:n.*1334G>A | |
| XM_017028812.1:c.2036C>T (ACO2) | XP_016884301.1:p.Pro679Leu | |
| XM_024452250.1:c.2135C>T (ACO2) | XP_024308018.1:p.Pro712Leu | |
| NM_001018050.4:c.*1334G>A (POLR3H) MANE Select | NP_001018060.1:n.*1334G>A | |
| NM_001098.3:c.2135C>T (ACO2) MANE Select | NP_001089.1:p.Pro712Leu | |
| NM_001018052.4:c.*1334G>A (POLR3H) | NP_001018062.1:n.*1334G>A | |
| NM_001282884.2:c.*1334G>A (POLR3H) | NP_001269813.1:n.*1334G>A | |
| NM_001282885.2:c.*1334G>A (POLR3H) | NP_001269814.1:n.*1334G>A | |
| NM_138338.5:c.*1334G>A (POLR3H) | NP_612211.1:n.*1334G>A |