Linked Data
ClinVar Variation Id:
134336
dbSNP Id:
rs139600847
ExAC:
6:35425721 C / A
gnomAD v2:
6-35425721-C-A
gnomAD v3:
6-35457944-C-A
gnomAD v4:
6-35457944-C-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35457944C>A , CM000668.2:g.35457944C>A | GRCh38 |
| NC_000006.11:g.35425721C>A , CM000668.1:g.35425721C>A | GRCh37 |
| NC_000006.10:g.35533699C>A | NCBI36 |
| NG_011708.1:g.10584C>A , LRG_498:g.10584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.929C>A | ENSP00000512511.1:p.Pro310Gln | |
| ENST00000696265.1:c.929C>A | ENSP00000512512.1:p.Pro310Gln | |
| ENST00000696266.1:c.618+344C>A | ENSP00000512513.1:n.618+344C>A | |
| ENST00000696267.1:n.884C>A | ||
| ENST00000229769.3:c.929C>A MANE Select | ENSP00000229769.2:p.Pro310Gln | |
| ENST00000648059.1:c.929C>A | ENSP00000497902.1:p.Pro310Gln | |
| ENST00000229769.2:c.929C>A | ENSP00000229769.2:p.Pro310Gln | |
| NM_021922.2:c.929C>A , LRG_498t1:c.929C>A | NP_068741.1:p.Pro310Gln | |
| XM_005248885.2:c.929C>A | XP_005248942.1:p.Pro310Gln | |
| XM_005248886.2:c.900+344C>A | XP_005248943.1:n.900+344C>A | |
| XM_005248887.2:c.929C>A | XP_005248944.1:p.Pro310Gln | |
| XM_005248888.2:c.929C>A | XP_005248945.1:p.Pro310Gln | |
| XM_011514343.1:c.635C>A | XP_011512645.1:p.Pro212Gln | |
| XM_011514344.1:c.635C>A | XP_011512646.1:p.Pro212Gln | |
| XM_005248888.3:c.929C>A | XP_005248945.1:p.Pro310Gln | |
| XM_011514343.2:c.635C>A | XP_011512645.1:p.Pro212Gln | |
| XR_001743226.1:n.1136C>A | ||
| XR_002956267.1:n.1451C>A | ||
| NM_021922.3:c.929C>A MANE Select | NP_068741.1:p.Pro310Gln |