Linked Data
ClinVar Variation Id:
347407
dbSNP Id:
rs796785947
gnomAD v2:
4-120107272-G-A
gnomAD v3:
4-119186117-G-A
gnomAD v4:
4-119186117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119186117G>A , CM000666.2:g.119186117G>A | GRCh38 |
| NC_000004.11:g.120107272G>A , CM000666.1:g.120107272G>A | GRCh37 |
| NC_000004.10:g.120326720G>A | NCBI36 |
| NG_029747.1:g.55334G>A , LRG_396:g.55334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307128.6:c.712G>A MANE Select | ENSP00000306997.6:p.Gly238Arg | |
| ENST00000307128.5:c.712G>A | ENSP00000306997.5:p.Gly238Arg | |
| NM_016599.4:c.712G>A , LRG_396t1:c.712G>A | NP_057683.1:p.Gly238Arg | |
| NM_016599.5:c.712G>A MANE Select | NP_057683.1:p.Gly238Arg |