Linked Data
ClinVar Variation Id:
1417070
ClinVar RCV Id:
RCV001948052
dbSNP Id:
rs749997395
ExAC:
7:17379242 A / G
gnomAD v2:
7-17379242-A-G
gnomAD v3:
7-17339618-A-G
gnomAD v4:
7-17339618-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339618A>G , CM000669.2:g.17339618A>G | GRCh38 |
| NC_000007.13:g.17379242A>G , CM000669.1:g.17379242A>G | GRCh37 |
| NC_000007.12:g.17345767A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1793A>G MANE Select | ENSP00000242057.4:p.Asp598Gly | |
| ENST00000637807.1:c.1763A>G | ENSP00000490530.1:p.Asp588Gly | |
| ENST00000642825.1:c.1748A>G | ENSP00000495987.1:p.Asp583Gly | |
| ENST00000242057.8:c.1793A>G | ENSP00000242057.4:p.Asp598Gly | |
| ENST00000463496.1:c.1793A>G | ENSP00000436466.1:p.Asp598Gly | |
| NM_001621.4:c.1793A>G | NP_001612.1:p.Asp598Gly | |
| NM_001621.5:c.1793A>G MANE Select | NP_001612.1:p.Asp598Gly |