Linked Data
ClinVar Variation Id:
3171712
ClinVar RCV Id:
RCV004458583
dbSNP Id:
rs377648766
ExAC:
16:731849 G / A
gnomAD v2:
16-731849-G-A
gnomAD v3:
16-681849-G-A
gnomAD v4:
16-681849-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681849G>A , CM000678.2:g.681849G>A | GRCh38 |
| NC_000016.9:g.731849G>A , CM000678.1:g.731849G>A | GRCh37 |
| NC_000016.8:g.671850G>A | NCBI36 |
| NG_034141.1:g.6739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.581G>A (STUB1) MANE Select | ENSP00000219548.4:p.Arg194Gln | |
| ENST00000609261.6:c.*945C>T (JMJD8) MANE Select | ENSP00000477481.1:n.*945C>T | |
| ENST00000219548.8:c.581G>A (STUB1) | ENSP00000219548.4:p.Arg194Gln | |
| ENST00000412368.6:c.*945C>T (JMJD8) | ENSP00000399475.2:n.*945C>T | |
| ENST00000563505.5:n.677G>A (STUB1) | ||
| ENST00000564316.1:c.180G>A (STUB1) | ||
| ENST00000564370.5:c.365G>A (STUB1) | ENSP00000456875.1:p.Arg122Gln | |
| ENST00000565302.5:n.1824C>T (JMJD8) | ||
| ENST00000565677.5:c.365G>A (STUB1) | ENSP00000457228.1:p.Arg122Gln | |
| ENST00000566181.2:n.350G>A (STUB1) | ||
| ENST00000566408.5:c.298G>A (STUB1) | ||
| ENST00000567120.5:n.2027C>T (JMJD8) | ||
| ENST00000567173.5:c.524G>A (STUB1) | ENSP00000456591.1:p.Arg175Gln | |
| ENST00000568689.5:n.1848C>T (JMJD8) | ||
| ENST00000569248.5:n.1155G>A (STUB1) | ||
| ENST00000609261.5:c.*945C>T (JMJD8) | ENSP00000477481.1:n.*945C>T | |
| ENST00000620831.4:c.-50+38546G>A (MSLN) | ENSP00000482893.1:n.-50+38546G>A | |
| NM_001005920.2:c.*945C>T (JMJD8) | NP_001005920.2:n.*945C>T | |
| NM_001293197.1:c.365G>A (STUB1) | NP_001280126.1:p.Arg122Gln | |
| NM_005861.3:c.581G>A (STUB1) | NP_005852.2:p.Arg194Gln | |
| XM_005255295.3:c.*979C>T (JMJD8) | XP_005255352.1:n.*979C>T | |
| XM_005255297.3:c.*945C>T (JMJD8) | XP_005255354.1:n.*945C>T | |
| XM_011522474.1:c.*945C>T (JMJD8) | XP_011520776.1:n.*945C>T | |
| NM_001005920.3:c.*945C>T (JMJD8) | NP_001005920.3:n.*945C>T | |
| NM_001323918.2:c.*979C>T (JMJD8) | NP_001310847.2:n.*979C>T | |
| NM_001323919.2:c.*945C>T (JMJD8) | NP_001310848.2:n.*945C>T | |
| NM_001323920.2:c.*945C>T (JMJD8) | NP_001310849.2:n.*945C>T | |
| NM_001323922.2:c.*979C>T (JMJD8) | NP_001310851.2:n.*979C>T | |
| NR_136650.2:n.1838C>T (JMJD8) | ||
| NR_136651.2:n.1843C>T (JMJD8) | ||
| NR_136652.2:n.1753C>T (JMJD8) | ||
| NM_001005920.4:c.*945C>T (JMJD8) MANE Select | NP_001005920.3:n.*945C>T | |
| NM_005861.4:c.581G>A (STUB1) MANE Select | NP_005852.2:p.Arg194Gln | |
| NM_001293197.2:c.365G>A (STUB1) | NP_001280126.1:p.Arg122Gln | |
| NM_001323918.3:c.*979C>T (JMJD8) | NP_001310847.2:n.*979C>T | |
| NM_001323919.3:c.*945C>T (JMJD8) | NP_001310848.2:n.*945C>T | |
| NM_001323920.3:c.*945C>T (JMJD8) | NP_001310849.2:n.*945C>T | |
| NM_001323922.3:c.*979C>T (JMJD8) | NP_001310851.2:n.*979C>T | |
| NR_136650.3:n.1838C>T (JMJD8) | ||
| NR_136651.3:n.1843C>T (JMJD8) | ||
| NR_136652.3:n.1753C>T (JMJD8) |