Linked Data
ClinVar Variation Id:
958185
ClinVar RCV Id:
RCV001231302
dbSNP Id:
rs1318083010
gnomAD v2:
7-17379453-C-G
gnomAD v4:
7-17339829-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339829C>G , CM000669.2:g.17339829C>G | GRCh38 |
| NC_000007.13:g.17379453C>G , CM000669.1:g.17379453C>G | GRCh37 |
| NC_000007.12:g.17345978C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.2004C>G MANE Select | ENSP00000242057.4:p.Asp668Glu | |
| ENST00000637807.1:c.1974C>G | ENSP00000490530.1:p.Asp658Glu | |
| ENST00000642825.1:c.1959C>G | ENSP00000495987.1:p.Asp653Glu | |
| ENST00000242057.8:c.2004C>G | ENSP00000242057.4:p.Asp668Glu | |
| ENST00000463496.1:c.2004C>G | ENSP00000436466.1:p.Asp668Glu | |
| NM_001621.4:c.2004C>G | NP_001612.1:p.Asp668Glu | |
| NM_001621.5:c.2004C>G MANE Select | NP_001612.1:p.Asp668Glu |