Linked Data
ClinVar Variation Id:
390240
dbSNP Id:
rs1057523689
gnomAD v2:
6-143806338-G-A
gnomAD v4:
6-143485201-G-A
PubMed:
PMID:27557811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485201G>A , CM000668.2:g.143485201G>A | GRCh38 |
| NC_000006.11:g.143806338G>A , CM000668.1:g.143806338G>A | GRCh37 |
| NC_000006.10:g.143848031G>A | NCBI36 |
| NG_008459.1:g.39421G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.991G>A MANE Select | ENSP00000356563.4:p.Gly331Arg | |
| ENST00000367591.4:c.991G>A | ENSP00000356563.4:p.Gly331Arg | |
| ENST00000585848.1:n.130G>A | ||
| NM_003630.2:c.991G>A | NP_003621.1:p.Gly331Arg | |
| NM_003630.3:c.991G>A MANE Select | NP_003621.1:p.Gly331Arg |