Linked Data
ClinVar Variation Id:
208269
ClinVar RCV Id:
RCV000206913
dbSNP Id:
rs864621985
PubMed:
PMID:22161967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657495A>T , CM000681.2:g.12657495A>T | GRCh38 |
| NC_000019.9:g.12768309A>T , CM000681.1:g.12768309A>T | GRCh37 |
| NC_000019.8:g.12629309A>T | NCBI36 |
| NG_008318.1:g.14283T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.1370T>A MANE Select | ENSP00000395473.2:p.Val457Glu | |
| ENST00000221363.8:c.1367T>A | ENSP00000221363.4:p.Val456Glu | |
| ENST00000456935.6:c.1370T>A | ENSP00000395473.2:p.Val457Glu | |
| ENST00000465830.1:n.534T>A | ||
| ENST00000466794.5:n.1269T>A | ||
| ENST00000495617.1:n.546T>A | ||
| NM_000528.3:c.1370T>A | NP_000519.2:p.Val457Glu | |
| NM_001173498.1:c.1367T>A | NP_001166969.1:p.Val456Glu | |
| XM_005259913.1:c.1373T>A | XP_005259970.1:p.Val458Glu | |
| XM_011528017.1:c.269T>A | XP_011526319.1:p.Val90Glu | |
| XM_005259913.2:c.1373T>A | XP_005259970.1:p.Val458Glu | |
| XM_024451518.1:c.269T>A | XP_024307286.1:p.Val90Glu | |
| NM_000528.4:c.1370T>A MANE Select | NP_000519.2:p.Val457Glu | |
| NM_001173498.2:c.1367T>A | NP_001166969.1:p.Val456Glu |