Linked Data
ClinVar Variation Id:
3188202
ClinVar RCV Id:
RCV004480114
dbSNP Id:
rs575936370
ExAC:
6:30890547 C / A
gnomAD v2:
6-30890547-C-A
gnomAD v3:
6-30922770-C-A
gnomAD v4:
6-30922770-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30922770C>A , CM000668.2:g.30922770C>A | GRCh38 |
| NC_000006.11:g.30890547C>A , CM000668.1:g.30890547C>A | GRCh37 |
| NC_000006.10:g.30998526C>A | NCBI36 |
| NG_034224.1:g.13563C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2102C>A | ENSP00000441000.2:p.Ala701Glu | |
| ENST00000672801.1:c.2096C>A | ENSP00000500615.1:p.Ala699Glu | |
| ENST00000676266.1:c.2102C>A MANE Select | ENSP00000502585.1:p.Ala701Glu | |
| ENST00000321897.9:c.2102C>A | ENSP00000316092.5:p.Ala701Glu | |
| ENST00000469358.5:n.2090C>A | ||
| ENST00000476162.5:n.889C>A | ||
| ENST00000477052.1:n.188C>A | ||
| ENST00000477288.5:n.4715C>A | ||
| ENST00000541562.5:c.2192C>A | ENSP00000441000.1:p.Ala731Glu | |
| ENST00000542001.5:c.2096C>A | ENSP00000438200.2:p.Ala699Glu | |
| ENST00000625423.2:c.1682C>A | ENSP00000485818.1:p.Ala561Glu | |
| NM_001167733.2:c.1682C>A | NP_001161205.1:p.Ala561Glu | |
| NM_001167734.1:c.2192C>A | NP_001161206.1:p.Ala731Glu | |
| NM_020442.5:c.2102C>A | NP_065175.4:p.Ala701Glu | |
| NM_001167733.3:c.1682C>A | NP_001161205.1:p.Ala561Glu | |
| NM_001167734.2:c.2192C>A | NP_001161206.1:p.Ala731Glu | |
| NM_020442.6:c.2102C>A MANE Select | NP_065175.4:p.Ala701Glu |