Linked Data
ClinVar Variation Id:
446461
ClinVar RCV Id:
RCV000515723
dbSNP Id:
rs749013429
gnomAD v3:
7-107702030-C-A
gnomAD v4:
7-107702030-C-A
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107702030C>A , CM000669.2:g.107702030C>A | GRCh38 |
| NC_000007.13:g.107342475C>A , CM000669.1:g.107342475C>A | GRCh37 |
| NC_000007.12:g.107129711C>A | NCBI36 |
| NG_008489.1:g.46396C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2007C>A MANE Select | ENSP00000494017.1:p.Asp669Glu | |
| ENST00000644846.1:c.718C>A | ||
| ENST00000265715.7:c.2007C>A | ENSP00000265715.3:p.Asp669Glu | |
| ENST00000492030.2:n.294C>A | ||
| NM_000441.1:c.2007C>A | NP_000432.1:p.Asp669Glu | |
| XM_005250425.1:c.2007C>A | XP_005250482.1:p.Asp669Glu | |
| XM_005250425.2:c.2007C>A | XP_005250482.1:p.Asp669Glu | |
| XM_017012318.1:c.1929C>A | XP_016867807.1:p.Asp643Glu | |
| NM_000441.2:c.2007C>A MANE Select | NP_000432.1:p.Asp669Glu |