Linked Data
ClinVar Variation Id:
1470663
ClinVar RCV Id:
RCV001964291
dbSNP Id:
rs765874987
ExAC:
7:17379467 A / G
gnomAD v2:
7-17379467-A-G
gnomAD v4:
7-17339843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339843A>G , CM000669.2:g.17339843A>G | GRCh38 |
| NC_000007.13:g.17379467A>G , CM000669.1:g.17379467A>G | GRCh37 |
| NC_000007.12:g.17345992A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.2018A>G MANE Select | ENSP00000242057.4:p.Asn673Ser | |
| ENST00000637807.1:c.1988A>G | ENSP00000490530.1:p.Asn663Ser | |
| ENST00000642825.1:c.1973A>G | ENSP00000495987.1:p.Asn658Ser | |
| ENST00000242057.8:c.2018A>G | ENSP00000242057.4:p.Asn673Ser | |
| ENST00000463496.1:c.2018A>G | ENSP00000436466.1:p.Asn673Ser | |
| NM_001621.4:c.2018A>G | NP_001612.1:p.Asn673Ser | |
| NM_001621.5:c.2018A>G MANE Select | NP_001612.1:p.Asn673Ser |