Linked Data
ClinVar Variation Id:
3188203
ClinVar RCV Id:
RCV004480115
dbSNP Id:
rs1794638324
gnomAD v3:
6-30923173-C-G
gnomAD v4:
6-30923173-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923173C>G , CM000668.2:g.30923173C>G | GRCh38 |
| NC_000006.11:g.30890950C>G , CM000668.1:g.30890950C>G | GRCh37 |
| NC_000006.10:g.30998929C>G | NCBI36 |
| NG_034224.1:g.13966C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2255C>G | ENSP00000441000.2:p.Ala752Gly | |
| ENST00000672801.1:c.2249C>G | ENSP00000500615.1:p.Ala750Gly | |
| ENST00000676266.1:c.2255C>G MANE Select | ENSP00000502585.1:p.Ala752Gly | |
| ENST00000321897.9:c.2255C>G | ENSP00000316092.5:p.Ala752Gly | |
| ENST00000469358.5:n.2243C>G | ||
| ENST00000476162.5:n.1042C>G | ||
| ENST00000477052.1:n.341C>G | ||
| ENST00000477288.5:n.4868C>G | ||
| ENST00000541562.5:c.2345C>G | ENSP00000441000.1:p.Ala782Gly | |
| ENST00000542001.5:c.2249C>G | ENSP00000438200.2:p.Ala750Gly | |
| ENST00000625423.2:c.1835C>G | ENSP00000485818.1:p.Ala612Gly | |
| NM_001167733.2:c.1835C>G | NP_001161205.1:p.Ala612Gly | |
| NM_001167734.1:c.2345C>G | NP_001161206.1:p.Ala782Gly | |
| NM_020442.5:c.2255C>G | NP_065175.4:p.Ala752Gly | |
| NM_001167733.3:c.1835C>G | NP_001161205.1:p.Ala612Gly | |
| NM_001167734.2:c.2345C>G | NP_001161206.1:p.Ala782Gly | |
| NM_020442.6:c.2255C>G MANE Select | NP_065175.4:p.Ala752Gly |