Linked Data
ClinVar Variation Id:
7088
ClinVar RCV Id:
RCV000007504
dbSNP Id:
rs121909052
PubMed:
PMID:12103288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167823019A>G , CM000665.2:g.167823019A>G | GRCh38 |
| NC_000003.11:g.167540807A>G , CM000665.1:g.167540807A>G | GRCh37 |
| NC_000003.10:g.169023501A>G | NCBI36 |
| NG_008217.1:g.92376A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446050.7:c.1013A>G MANE Select | ENSP00000397373.2:p.His338Arg | |
| ENST00000295777.9:c.1013A>G | ENSP00000295777.5:p.His338Arg | |
| ENST00000446050.6:c.1013A>G | ENSP00000397373.2:p.His338Arg | |
| ENST00000466865.1:c.138A>G | ||
| ENST00000488374.5:n.209A>G | ||
| ENST00000494666.1:n.84A>G | ||
| NM_001122752.1:c.1013A>G | NP_001116224.1:p.His338Arg | |
| NM_005025.4:c.1013A>G | NP_005016.1:p.His338Arg | |
| XM_017006618.2:c.1013A>G | XP_016862107.1:p.His338Arg | |
| NM_001122752.2:c.1013A>G MANE Select | NP_001116224.1:p.His338Arg | |
| NM_005025.5:c.1013A>G | NP_005016.1:p.His338Arg |