Linked Data
dbSNP Id:
rs756967274
ExAC:
16:731805 G / C
gnomAD v2:
16-731805-G-C
gnomAD v4:
16-681805-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681805G>C , CM000678.2:g.681805G>C | GRCh38 |
| NC_000016.9:g.731805G>C , CM000678.1:g.731805G>C | GRCh37 |
| NC_000016.8:g.671806G>C | NCBI36 |
| NG_034141.1:g.6695G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.537G>C (STUB1) MANE Select | ENSP00000219548.4:p.Glu179Asp | |
| ENST00000609261.6:c.*989C>G (JMJD8) MANE Select | ENSP00000477481.1:n.*989C>G | |
| ENST00000219548.8:c.537G>C (STUB1) | ENSP00000219548.4:p.Glu179Asp | |
| ENST00000412368.6:c.*989C>G (JMJD8) | ENSP00000399475.2:n.*989C>G | |
| ENST00000563505.5:n.633G>C (STUB1) | ||
| ENST00000564316.1:c.136G>C (STUB1) | ||
| ENST00000564370.5:c.321G>C (STUB1) | ENSP00000456875.1:p.Glu107Asp | |
| ENST00000565302.5:n.1868C>G (JMJD8) | ||
| ENST00000565677.5:c.321G>C (STUB1) | ENSP00000457228.1:p.Glu107Asp | |
| ENST00000566181.2:n.306G>C (STUB1) | ||
| ENST00000566408.5:c.254G>C (STUB1) | ||
| ENST00000567120.5:n.2071C>G (JMJD8) | ||
| ENST00000567173.5:c.480G>C (STUB1) | ENSP00000456591.1:p.Glu160Asp | |
| ENST00000568689.5:n.1892C>G (JMJD8) | ||
| ENST00000569248.5:n.1111G>C (STUB1) | ||
| ENST00000609261.5:c.*989C>G (JMJD8) | ENSP00000477481.1:n.*989C>G | |
| ENST00000620831.4:c.-50+38502G>C (MSLN) | ENSP00000482893.1:n.-50+38502G>C | |
| NM_001005920.2:c.*989C>G (JMJD8) | NP_001005920.2:n.*989C>G | |
| NM_001293197.1:c.321G>C (STUB1) | NP_001280126.1:p.Glu107Asp | |
| NM_005861.3:c.537G>C (STUB1) | NP_005852.2:p.Glu179Asp | |
| XM_005255295.3:c.*1023C>G (JMJD8) | XP_005255352.1:n.*1023C>G | |
| XM_005255297.3:c.*989C>G (JMJD8) | XP_005255354.1:n.*989C>G | |
| XM_011522474.1:c.*989C>G (JMJD8) | XP_011520776.1:n.*989C>G | |
| NM_001005920.3:c.*989C>G (JMJD8) | NP_001005920.3:n.*989C>G | |
| NM_001323918.2:c.*1023C>G (JMJD8) | NP_001310847.2:n.*1023C>G | |
| NM_001323919.2:c.*989C>G (JMJD8) | NP_001310848.2:n.*989C>G | |
| NM_001323920.2:c.*989C>G (JMJD8) | NP_001310849.2:n.*989C>G | |
| NM_001323922.2:c.*1023C>G (JMJD8) | NP_001310851.2:n.*1023C>G | |
| NR_136650.2:n.1882C>G (JMJD8) | ||
| NR_136651.2:n.1887C>G (JMJD8) | ||
| NR_136652.2:n.1797C>G (JMJD8) | ||
| NM_001005920.4:c.*989C>G (JMJD8) MANE Select | NP_001005920.3:n.*989C>G | |
| NM_005861.4:c.537G>C (STUB1) MANE Select | NP_005852.2:p.Glu179Asp | |
| NM_001293197.2:c.321G>C (STUB1) | NP_001280126.1:p.Glu107Asp | |
| NM_001323918.3:c.*1023C>G (JMJD8) | NP_001310847.2:n.*1023C>G | |
| NM_001323919.3:c.*989C>G (JMJD8) | NP_001310848.2:n.*989C>G | |
| NM_001323920.3:c.*989C>G (JMJD8) | NP_001310849.2:n.*989C>G | |
| NM_001323922.3:c.*1023C>G (JMJD8) | NP_001310851.2:n.*1023C>G | |
| NR_136650.3:n.1882C>G (JMJD8) | ||
| NR_136651.3:n.1887C>G (JMJD8) | ||
| NR_136652.3:n.1797C>G (JMJD8) |