Linked Data
ClinVar Variation Id:
2046520
ClinVar RCV Id:
RCV002886659
dbSNP Id:
rs1393549175
gnomAD v2:
7-17379440-G-A
gnomAD v4:
7-17339816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339816G>A , CM000669.2:g.17339816G>A | GRCh38 |
| NC_000007.13:g.17379440G>A , CM000669.1:g.17379440G>A | GRCh37 |
| NC_000007.12:g.17345965G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1991G>A MANE Select | ENSP00000242057.4:p.Cys664Tyr | |
| ENST00000637807.1:c.1961G>A | ENSP00000490530.1:p.Cys654Tyr | |
| ENST00000642825.1:c.1946G>A | ENSP00000495987.1:p.Cys649Tyr | |
| ENST00000242057.8:c.1991G>A | ENSP00000242057.4:p.Cys664Tyr | |
| ENST00000463496.1:c.1991G>A | ENSP00000436466.1:p.Cys664Tyr | |
| NM_001621.4:c.1991G>A | NP_001612.1:p.Cys664Tyr | |
| NM_001621.5:c.1991G>A MANE Select | NP_001612.1:p.Cys664Tyr |