Linked Data
ClinVar Variation Id:
2019
ClinVar RCV Id:
RCV003415626
dbSNP Id:
rs121434346
ExAC:
5:1212453 G / A
gnomAD v2:
5-1212453-G-A
gnomAD v3:
5-1212338-G-A
gnomAD v4:
5-1212338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1212338G>A , CM000667.2:g.1212338G>A | GRCh38 |
| NC_000005.9:g.1212453G>A , CM000667.1:g.1212453G>A | GRCh37 |
| NC_000005.8:g.1265453G>A | NCBI36 |
| NG_008282.1:g.15744G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304460.11:c.517G>A MANE Select | ENSP00000305302.10:p.Asp173Asn | |
| ENST00000304460.10:c.517G>A | ENSP00000305302.10:p.Asp173Asn | |
| ENST00000515652.5:c.425G>A | ENSP00000425701.1:p.Gly142Glu | |
| NM_001003841.2:c.517G>A | NP_001003841.1:p.Asp173Asn | |
| NM_001003841.3:c.517G>A MANE Select | NP_001003841.1:p.Asp173Asn |