Linked Data
ClinVar Variation Id:
9080
ClinVar RCV Id:
RCV000009648
dbSNP Id:
rs121434635
gnomAD v4:
1-186956219-G-A
COSMIC:
COSM215498
PubMed:
PMID:18451993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186956219G>A , CM000663.2:g.186956219G>A | GRCh38 |
| NC_000001.10:g.186925351G>A , CM000663.1:g.186925351G>A | GRCh37 |
| NC_000001.9:g.185191974G>A | NCBI36 |
| NG_012203.1:g.132320G>A | |
| NG_012203.2:g.132320G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367466.4:c.1454G>A MANE Select | ENSP00000356436.3:p.Arg485His | |
| ENST00000367466.3:c.1454G>A | ENSP00000356436.3:p.Arg485His | |
| NM_001311193.1:c.1274G>A | NP_001298122.1:p.Arg425His | |
| NM_024420.2:c.1454G>A | NP_077734.1:p.Arg485His | |
| XM_005245267.2:c.1343G>A | XP_005245324.1:p.Arg448His | |
| XM_011509641.1:c.1475G>A | XP_011507943.1:p.Arg492His | |
| XM_011509642.1:c.1454G>A | XP_011507944.1:p.Arg485His | |
| XM_011509643.1:c.1454G>A | XP_011507945.1:p.Arg485His | |
| XR_921838.1:n.1477+38G>A | ||
| XM_005245267.4:c.1469G>A | XP_005245324.2:p.Arg490His | |
| XM_011509642.2:c.1454G>A | XP_011507944.1:p.Arg485His | |
| NM_001311193.2:c.1274G>A | NP_001298122.2:p.Arg425His | |
| NM_024420.3:c.1454G>A MANE Select | NP_077734.2:p.Arg485His |