Linked Data
ClinVar Variation Id:
178766
dbSNP Id:
rs529208
ExAC:
9:286593 C / A
gnomAD v2:
9-286593-C-A
gnomAD v3:
9-286593-C-A
gnomAD v4:
9-286593-C-A
PubMed:
PMID:26680607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.286593C>A , CM000671.2:g.286593C>A | GRCh38 |
| NC_000009.11:g.286593C>A , CM000671.1:g.286593C>A | GRCh37 |
| NC_000009.10:g.276593C>A | NCBI36 |
| NG_017007.1:g.76729C>A , LRG_196:g.76729C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.85C>A | ENSP00000371766.2:p.Pro29Thr | |
| ENST00000483757.6:c.85C>A | ENSP00000417691.2:p.Pro29Thr | |
| ENST00000682121.1:n.298C>A | ||
| ENST00000682249.1:c.85C>A | ENSP00000507731.1:p.Pro29Thr | |
| ENST00000684166.1:n.398C>A | ||
| ENST00000684384.1:n.398C>A | ||
| ENST00000432829.7:c.289C>A MANE Select | ENSP00000394888.3:p.Pro97Thr | |
| ENST00000382341.5:n.184C>A | ||
| ENST00000432829.6:c.289C>A | ENSP00000394888.3:p.Pro97Thr | |
| ENST00000453981.5:c.85C>A | ENSP00000408464.2:p.Pro29Thr | |
| ENST00000454469.6:n.398C>A | ||
| ENST00000469197.5:c.*374C>A | ENSP00000418587.1:n.*374C>A | |
| ENST00000469391.5:c.85C>A | ENSP00000419438.1:p.Pro29Thr | |
| ENST00000478380.5:n.168C>A | ||
| ENST00000479404.5:c.85C>A | ENSP00000417082.1:p.Pro29Thr | |
| ENST00000483757.5:c.85C>A | ENSP00000417691.1:p.Pro29Thr | |
| ENST00000487230.5:c.85C>A | ENSP00000418318.1:p.Pro29Thr | |
| ENST00000495184.5:n.150C>A | ||
| ENST00000524396.5:c.*252C>A | ENSP00000436628.1:n.*252C>A | |
| NM_001190458.1:c.85C>A | NP_001177387.1:p.Pro29Thr | |
| NM_001193536.1:c.85C>A | NP_001180465.1:p.Pro29Thr | |
| NM_203447.3:c.289C>A , LRG_196t1:c.289C>A | NP_982272.2:p.Pro97Thr | |
| XM_011518045.1:c.85C>A | XP_011516347.1:p.Pro29Thr | |
| XM_011518046.1:c.151C>A | XP_011516348.1:p.Pro51Thr | |
| XM_011518047.1:c.85C>A | XP_011516349.1:p.Pro29Thr | |
| XM_011518048.1:c.85C>A | XP_011516350.1:p.Pro29Thr | |
| XM_011518045.3:c.85C>A | XP_011516347.1:p.Pro29Thr | |
| XM_011518046.2:c.151C>A | XP_011516348.1:p.Pro51Thr | |
| XM_011518047.3:c.85C>A | XP_011516349.1:p.Pro29Thr | |
| XM_011518048.2:c.85C>A | XP_011516350.1:p.Pro29Thr | |
| XM_017015173.1:c.85C>A | XP_016870662.1:p.Pro29Thr | |
| XM_017015174.1:c.151C>A | XP_016870663.1:p.Pro51Thr | |
| NM_001190458.2:c.85C>A | NP_001177387.1:p.Pro29Thr | |
| NM_001193536.2:c.85C>A | NP_001180465.1:p.Pro29Thr | |
| NM_203447.4:c.289C>A MANE Select | NP_982272.2:p.Pro97Thr |