Linked Data
ClinVar Variation Id:
1984756
ClinVar RCV Id:
RCV002756891
dbSNP Id:
rs139422560
ExAC:
7:17379426 C / T
gnomAD v2:
7-17379426-C-T
gnomAD v3:
7-17339802-C-T
gnomAD v4:
7-17339802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339802C>T , CM000669.2:g.17339802C>T | GRCh38 |
| NC_000007.13:g.17379426C>T , CM000669.1:g.17379426C>T | GRCh37 |
| NC_000007.12:g.17345951C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1977C>T MANE Select | ENSP00000242057.4:p.Phe659= | |
| ENST00000637807.1:c.1947C>T | ENSP00000490530.1:p.Phe649= | |
| ENST00000642825.1:c.1932C>T | ENSP00000495987.1:p.Phe644= | |
| ENST00000242057.8:c.1977C>T | ENSP00000242057.4:p.Phe659= | |
| ENST00000463496.1:c.1977C>T | ENSP00000436466.1:p.Phe659= | |
| NM_001621.4:c.1977C>T | NP_001612.1:p.Phe659= | |
| NM_001621.5:c.1977C>T MANE Select | NP_001612.1:p.Phe659= |