Linked Data
ClinVar Variation Id:
141426
ClinVar RCV Id:
RCV000129935
dbSNP Id:
rs587777584
ExAC:
6:30889753 C / A
gnomAD v2:
6-30889753-C-A
gnomAD v4:
6-30921976-C-A
PubMed:
PMID:25058219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30921976C>A , CM000668.2:g.30921976C>A | GRCh38 |
| NC_000006.11:g.30889753C>A , CM000668.1:g.30889753C>A | GRCh37 |
| NC_000006.10:g.30997732C>A | NCBI36 |
| NG_034224.1:g.12769C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.1787C>A | ENSP00000441000.2:p.Ala596Asp | |
| ENST00000672801.1:c.1781C>A | ENSP00000500615.1:p.Ala594Asp | |
| ENST00000676266.1:c.1787C>A MANE Select | ENSP00000502585.1:p.Ala596Asp | |
| ENST00000321897.9:c.1787C>A | ENSP00000316092.5:p.Ala596Asp | |
| ENST00000469358.5:n.1707C>A | ||
| ENST00000476162.5:n.594-140C>A | ||
| ENST00000477288.5:n.4400C>A | ||
| ENST00000541562.5:c.1877C>A | ENSP00000441000.1:p.Ala626Asp | |
| ENST00000542001.5:c.1781C>A | ENSP00000438200.2:p.Ala594Asp | |
| ENST00000625423.2:c.1367C>A | ENSP00000485818.1:p.Ala456Asp | |
| NM_001167733.2:c.1367C>A | NP_001161205.1:p.Ala456Asp | |
| NM_001167734.1:c.1877C>A | NP_001161206.1:p.Ala626Asp | |
| NM_020442.5:c.1787C>A | NP_065175.4:p.Ala596Asp | |
| NM_001167733.3:c.1367C>A | NP_001161205.1:p.Ala456Asp | |
| NM_001167734.2:c.1877C>A | NP_001161206.1:p.Ala626Asp | |
| NM_020442.6:c.1787C>A MANE Select | NP_065175.4:p.Ala596Asp |