Linked Data
ClinVar Variation Id:
196493
ClinVar RCV Id:
RCV000187131
RCV000515342
RCV000670572
RCV000723601
RCV001084070
RCV002252020
RCV002408767
RCV004537428
dbSNP Id:
rs139003032
ExAC:
8:1728678 A / T
gnomAD v2:
8-1728678-A-T
gnomAD v3:
8-1780512-A-T
gnomAD v4:
8-1780512-A-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1780512A>T , CM000670.2:g.1780512A>T | GRCh38 |
| NC_000008.10:g.1728678A>T , CM000670.1:g.1728678A>T | GRCh37 |
| NC_000008.9:g.1716085A>T | NCBI36 |
| NG_008656.2:g.29735A>T , LRG_691:g.29735A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331222.6:c.806A>T MANE Select | ENSP00000328182.4:p.Glu269Val | |
| ENST00000519254.2:c.806A>T | ENSP00000490016.1:p.Glu269Val | |
| ENST00000520991.3:c.*217A>T | ENSP00000487905.2:n.*217A>T | |
| ENST00000635751.1:c.806A>T | ENSP00000489694.1:p.Glu269Val | |
| ENST00000635773.1:c.496+8915A>T | ||
| ENST00000635855.1:c.543+8915A>T | ENSP00000489726.1:n.543+8915A>T | |
| ENST00000635970.1:c.806A>T | ENSP00000490439.1:p.Glu269Val | |
| ENST00000636175.1:c.343+8915A>T | ||
| ENST00000636934.1:c.543+8915A>T | ENSP00000490218.1:n.543+8915A>T | |
| ENST00000637083.1:c.806A>T | ENSP00000490235.1:p.Glu269Val | |
| ENST00000637156.1:c.806A>T | ENSP00000490458.1:p.Glu269Val | |
| ENST00000331222.4:c.806A>T | ENSP00000328182.4:p.Glu269Val | |
| ENST00000519254.1:n.325A>T | ||
| ENST00000523237.1:n.581A>T | ||
| NM_018941.3:c.806A>T , LRG_691t1:c.806A>T | NP_061764.2:p.Glu269Val | |
| XM_005266021.3:c.806A>T | XP_005266078.1:p.Glu269Val | |
| XM_005266022.1:c.806A>T | XP_005266079.1:p.Glu269Val | |
| XM_005266023.1:c.806A>T | XP_005266080.1:p.Glu269Val | |
| XM_011534745.1:c.806A>T | XP_011533047.1:p.Glu269Val | |
| XM_011534746.1:c.806A>T | XP_011533048.1:p.Glu269Val | |
| XM_005266021.4:c.806A>T | XP_005266078.1:p.Glu269Val | |
| XM_011534746.2:c.806A>T | XP_011533048.1:p.Glu269Val | |
| NM_018941.4:c.806A>T MANE Select | NP_061764.2:p.Glu269Val |