Linked Data
ClinVar Variation Id:
16101
ClinVar RCV Id:
RCV000017481
dbSNP Id:
rs28928874
PubMed:
PMID:11044475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.170998299A>T , CM000665.2:g.170998299A>T | GRCh38 |
| NC_000003.11:g.170716088A>T , CM000665.1:g.170716088A>T | GRCh37 |
| NC_000003.10:g.172198782A>T | NCBI36 |
| NG_008108.1:g.33681T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314251.8:c.1268T>A MANE Select | ENSP00000323568.3:p.Val423Glu | |
| ENST00000314251.7:c.1268T>A | ENSP00000323568.3:p.Val423Glu | |
| ENST00000469787.1:c.*735T>A | ENSP00000417918.1:n.*735T>A | |
| ENST00000497642.5:c.*735T>A | ENSP00000418456.1:n.*735T>A | |
| NM_000340.1:c.1268T>A | NP_000331.1:p.Val423Glu | |
| NM_001278658.1:c.911T>A | NP_001265587.1:p.Val304Glu | |
| NM_001278659.1:c.749T>A | NP_001265588.1:p.Val250Glu | |
| XM_011513087.1:c.1223T>A | XP_011511389.1:p.Val408Glu | |
| XM_011513088.1:c.1049T>A | XP_011511390.1:p.Val350Glu | |
| XM_011513089.1:c.749T>A | XP_011511391.1:p.Val250Glu | |
| XM_011513087.2:c.1223T>A | XP_011511389.1:p.Val408Glu | |
| XM_024453720.1:c.749T>A | XP_024309488.1:p.Val250Glu | |
| NM_000340.2:c.1268T>A MANE Select | NP_000331.1:p.Val423Glu | |
| NM_001278658.2:c.911T>A | NP_001265587.1:p.Val304Glu | |
| NM_001278659.2:c.749T>A | NP_001265588.1:p.Val250Glu |