Linked Data
dbSNP Id:
rs1362071330
gnomAD v2:
16-731818-C-T
gnomAD v3:
16-681818-C-T
gnomAD v4:
16-681818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681818C>T , CM000678.2:g.681818C>T | GRCh38 |
| NC_000016.9:g.731818C>T , CM000678.1:g.731818C>T | GRCh37 |
| NC_000016.8:g.671819C>T | NCBI36 |
| NG_034141.1:g.6708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.550C>T (STUB1) MANE Select | ENSP00000219548.4:p.His184Tyr | |
| ENST00000609261.6:c.*976G>A (JMJD8) MANE Select | ENSP00000477481.1:n.*976G>A | |
| ENST00000219548.8:c.550C>T (STUB1) | ENSP00000219548.4:p.His184Tyr | |
| ENST00000412368.6:c.*976G>A (JMJD8) | ENSP00000399475.2:n.*976G>A | |
| ENST00000563505.5:n.646C>T (STUB1) | ||
| ENST00000564316.1:c.149C>T (STUB1) | ||
| ENST00000564370.5:c.334C>T (STUB1) | ENSP00000456875.1:p.His112Tyr | |
| ENST00000565302.5:n.1855G>A (JMJD8) | ||
| ENST00000565677.5:c.334C>T (STUB1) | ENSP00000457228.1:p.His112Tyr | |
| ENST00000566181.2:n.319C>T (STUB1) | ||
| ENST00000566408.5:c.267C>T (STUB1) | ||
| ENST00000567120.5:n.2058G>A (JMJD8) | ||
| ENST00000567173.5:c.493C>T (STUB1) | ENSP00000456591.1:p.His165Tyr | |
| ENST00000568689.5:n.1879G>A (JMJD8) | ||
| ENST00000569248.5:n.1124C>T (STUB1) | ||
| ENST00000609261.5:c.*976G>A (JMJD8) | ENSP00000477481.1:n.*976G>A | |
| ENST00000620831.4:c.-50+38515C>T (MSLN) | ENSP00000482893.1:n.-50+38515C>T | |
| NM_001005920.2:c.*976G>A (JMJD8) | NP_001005920.2:n.*976G>A | |
| NM_001293197.1:c.334C>T (STUB1) | NP_001280126.1:p.His112Tyr | |
| NM_005861.3:c.550C>T (STUB1) | NP_005852.2:p.His184Tyr | |
| XM_005255295.3:c.*1010G>A (JMJD8) | XP_005255352.1:n.*1010G>A | |
| XM_005255297.3:c.*976G>A (JMJD8) | XP_005255354.1:n.*976G>A | |
| XM_011522474.1:c.*976G>A (JMJD8) | XP_011520776.1:n.*976G>A | |
| NM_001005920.3:c.*976G>A (JMJD8) | NP_001005920.3:n.*976G>A | |
| NM_001323918.2:c.*1010G>A (JMJD8) | NP_001310847.2:n.*1010G>A | |
| NM_001323919.2:c.*976G>A (JMJD8) | NP_001310848.2:n.*976G>A | |
| NM_001323920.2:c.*976G>A (JMJD8) | NP_001310849.2:n.*976G>A | |
| NM_001323922.2:c.*1010G>A (JMJD8) | NP_001310851.2:n.*1010G>A | |
| NR_136650.2:n.1869G>A (JMJD8) | ||
| NR_136651.2:n.1874G>A (JMJD8) | ||
| NR_136652.2:n.1784G>A (JMJD8) | ||
| NM_001005920.4:c.*976G>A (JMJD8) MANE Select | NP_001005920.3:n.*976G>A | |
| NM_005861.4:c.550C>T (STUB1) MANE Select | NP_005852.2:p.His184Tyr | |
| NM_001293197.2:c.334C>T (STUB1) | NP_001280126.1:p.His112Tyr | |
| NM_001323918.3:c.*1010G>A (JMJD8) | NP_001310847.2:n.*1010G>A | |
| NM_001323919.3:c.*976G>A (JMJD8) | NP_001310848.2:n.*976G>A | |
| NM_001323920.3:c.*976G>A (JMJD8) | NP_001310849.2:n.*976G>A | |
| NM_001323922.3:c.*1010G>A (JMJD8) | NP_001310851.2:n.*1010G>A | |
| NR_136650.3:n.1869G>A (JMJD8) | ||
| NR_136651.3:n.1874G>A (JMJD8) | ||
| NR_136652.3:n.1784G>A (JMJD8) |