Linked Data
ClinVar Variation Id:
7094
ClinVar RCV Id:
RCV000007511
dbSNP Id:
rs121909049
gnomAD v2:
16-67198770-C-A
COSMIC:
COSM4881878
PubMed:
PMID:12089525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67164867C>A , CM000678.2:g.67164867C>A | GRCh38 |
| NC_000016.9:g.67198770C>A , CM000678.1:g.67198770C>A | GRCh37 |
| NC_000016.8:g.65756271C>A | NCBI36 |
| NG_009294.1:g.6483C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000521374.6:c.56C>A MANE Select | ENSP00000430947.2:p.Ala19Asp | |
| ENST00000434833.6:c.56C>A | ENSP00000403219.2:p.Ala19Asp | |
| ENST00000517685.5:c.56C>A | ENSP00000428978.1:p.Ala19Asp | |
| ENST00000518227.1:c.698C>A | ||
| ENST00000518753.5:c.296-655C>A | ||
| ENST00000521314.5:c.56C>A | ENSP00000429580.1:p.Ala19Asp | |
| ENST00000521374.5:c.56C>A | ENSP00000430947.1:p.Ala19Asp | |
| ENST00000521624.5:c.56C>A | ENSP00000428161.1:p.Ala19Asp | |
| ENST00000522023.1:n.123C>A | ||
| ENST00000522295.5:c.56C>A | ENSP00000427832.1:p.Ala19Asp | |
| ENST00000522870.5:n.187C>A | ||
| ENST00000523562.5:c.56C>A | ENSP00000430631.1:p.Ala19Asp | |
| ENST00000580114.5:c.1021C>A | ||
| ENST00000584272.5:c.56C>A | ENSP00000463706.1:p.Ala19Asp | |
| NM_001040667.2:c.56C>A | NP_001035757.1:p.Ala19Asp | |
| NM_001538.3:c.56C>A | NP_001529.2:p.Ala19Asp | |
| NM_001040667.3:c.56C>A | NP_001035757.1:p.Ala19Asp | |
| NM_001374674.1:c.56C>A | NP_001361603.1:p.Ala19Asp | |
| NM_001374675.1:c.56C>A MANE Select | NP_001361604.1:p.Ala19Asp | |
| NM_001538.4:c.56C>A | NP_001529.2:p.Ala19Asp |