Linked Data
ClinVar Variation Id:
1168239
ClinVar RCV Id:
RCV001518339
dbSNP Id:
rs2066853
ExAC:
7:17379110 G / A
gnomAD v2:
7-17379110-G-A
gnomAD v3:
7-17339486-G-A
gnomAD v4:
7-17339486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339486G>A , CM000669.2:g.17339486G>A | GRCh38 |
| NC_000007.13:g.17379110G>A , CM000669.1:g.17379110G>A | GRCh37 |
| NC_000007.12:g.17345635G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242057.9:c.1661G>A MANE Select | ENSP00000242057.4:p.Arg554Lys | |
| ENST00000637807.1:c.1631G>A | ENSP00000490530.1:p.Arg544Lys | |
| ENST00000642825.1:c.1616G>A | ENSP00000495987.1:p.Arg539Lys | |
| ENST00000242057.8:c.1661G>A | ENSP00000242057.4:p.Arg554Lys | |
| ENST00000463496.1:c.1661G>A | ENSP00000436466.1:p.Arg554Lys | |
| ENST00000492120.1:n.643G>A | ||
| NM_001621.4:c.1661G>A | NP_001612.1:p.Arg554Lys | |
| NM_001621.5:c.1661G>A MANE Select | NP_001612.1:p.Arg554Lys |