Linked Data
ClinVar Variation Id:
2461785
ClinVar RCV Id:
RCV003184881
dbSNP Id:
rs538288405
ExAC:
16:731843 A / G
gnomAD v2:
16-731843-A-G
gnomAD v3:
16-681843-A-G
gnomAD v4:
16-681843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681843A>G , CM000678.2:g.681843A>G | GRCh38 |
| NC_000016.9:g.731843A>G , CM000678.1:g.731843A>G | GRCh37 |
| NC_000016.8:g.671844A>G | NCBI36 |
| NG_034141.1:g.6733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.575A>G (STUB1) MANE Select | ENSP00000219548.4:p.His192Arg | |
| ENST00000609261.6:c.*951T>C (JMJD8) MANE Select | ENSP00000477481.1:n.*951T>C | |
| ENST00000219548.8:c.575A>G (STUB1) | ENSP00000219548.4:p.His192Arg | |
| ENST00000412368.6:c.*951T>C (JMJD8) | ENSP00000399475.2:n.*951T>C | |
| ENST00000563505.5:n.671A>G (STUB1) | ||
| ENST00000564316.1:c.174A>G (STUB1) | ||
| ENST00000564370.5:c.359A>G (STUB1) | ENSP00000456875.1:p.His120Arg | |
| ENST00000565302.5:n.1830T>C (JMJD8) | ||
| ENST00000565677.5:c.359A>G (STUB1) | ENSP00000457228.1:p.His120Arg | |
| ENST00000566181.2:n.344A>G (STUB1) | ||
| ENST00000566408.5:c.292A>G (STUB1) | ||
| ENST00000567120.5:n.2033T>C (JMJD8) | ||
| ENST00000567173.5:c.518A>G (STUB1) | ENSP00000456591.1:p.His173Arg | |
| ENST00000568689.5:n.1854T>C (JMJD8) | ||
| ENST00000569248.5:n.1149A>G (STUB1) | ||
| ENST00000609261.5:c.*951T>C (JMJD8) | ENSP00000477481.1:n.*951T>C | |
| ENST00000620831.4:c.-50+38540A>G (MSLN) | ENSP00000482893.1:n.-50+38540A>G | |
| NM_001005920.2:c.*951T>C (JMJD8) | NP_001005920.2:n.*951T>C | |
| NM_001293197.1:c.359A>G (STUB1) | NP_001280126.1:p.His120Arg | |
| NM_005861.3:c.575A>G (STUB1) | NP_005852.2:p.His192Arg | |
| XM_005255295.3:c.*985T>C (JMJD8) | XP_005255352.1:n.*985T>C | |
| XM_005255297.3:c.*951T>C (JMJD8) | XP_005255354.1:n.*951T>C | |
| XM_011522474.1:c.*951T>C (JMJD8) | XP_011520776.1:n.*951T>C | |
| NM_001005920.3:c.*951T>C (JMJD8) | NP_001005920.3:n.*951T>C | |
| NM_001323918.2:c.*985T>C (JMJD8) | NP_001310847.2:n.*985T>C | |
| NM_001323919.2:c.*951T>C (JMJD8) | NP_001310848.2:n.*951T>C | |
| NM_001323920.2:c.*951T>C (JMJD8) | NP_001310849.2:n.*951T>C | |
| NM_001323922.2:c.*985T>C (JMJD8) | NP_001310851.2:n.*985T>C | |
| NR_136650.2:n.1844T>C (JMJD8) | ||
| NR_136651.2:n.1849T>C (JMJD8) | ||
| NR_136652.2:n.1759T>C (JMJD8) | ||
| NM_001005920.4:c.*951T>C (JMJD8) MANE Select | NP_001005920.3:n.*951T>C | |
| NM_005861.4:c.575A>G (STUB1) MANE Select | NP_005852.2:p.His192Arg | |
| NM_001293197.2:c.359A>G (STUB1) | NP_001280126.1:p.His120Arg | |
| NM_001323918.3:c.*985T>C (JMJD8) | NP_001310847.2:n.*985T>C | |
| NM_001323919.3:c.*951T>C (JMJD8) | NP_001310848.2:n.*951T>C | |
| NM_001323920.3:c.*951T>C (JMJD8) | NP_001310849.2:n.*951T>C | |
| NM_001323922.3:c.*985T>C (JMJD8) | NP_001310851.2:n.*985T>C | |
| NR_136650.3:n.1844T>C (JMJD8) | ||
| NR_136651.3:n.1849T>C (JMJD8) | ||
| NR_136652.3:n.1759T>C (JMJD8) |