Linked Data
ClinVar Variation Id:
65482
ClinVar RCV Id:
RCV000055672
dbSNP Id:
rs398123057
PubMed:
PMID:23830519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49963495A>G , CM000674.2:g.49963495A>G | GRCh38 |
| NC_000012.11:g.50357278A>G , CM000674.1:g.50357278A>G | GRCh37 |
| NC_000012.10:g.48643545A>G | NCBI36 |
| NG_033883.1:g.7000A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000293599.7:c.367A>G MANE Select | ENSP00000293599.5:p.Asn123Asp | |
| ENST00000293599.6:c.367A>G | ENSP00000293599.5:p.Asn123Asp | |
| NM_001651.3:c.367A>G | NP_001642.1:p.Asn123Asp | |
| XM_005268838.2:c.367A>G | XP_005268895.1:p.Asn123Asp | |
| NM_001651.4:c.367A>G MANE Select | NP_001642.1:p.Asn123Asp |