Linked Data
ClinVar Variation Id:
127077
dbSNP Id:
rs201799893
ExAC:
22:32500780 G / A
gnomAD v2:
22-32500780-G-A
gnomAD v3:
22-32104793-G-A
gnomAD v4:
22-32104793-G-A
COSMIC:
COSM1535237
PubMed:
PMID:20486940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104793G>A , CM000684.2:g.32104793G>A | GRCh38 |
| NC_000022.10:g.32500780G>A , CM000684.1:g.32500780G>A | GRCh37 |
| NC_000022.9:g.30830780G>A | NCBI36 |
| NG_017045.1:g.66762G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266088.9:c.1673G>A MANE Select | ENSP00000266088.4:p.Arg558His | |
| ENST00000266088.8:c.1673G>A | ENSP00000266088.4:p.Arg558His | |
| ENST00000543737.2:c.1292G>A | ENSP00000444898.1:p.Arg431His | |
| NM_000343.3:c.1673G>A | NP_000334.1:p.Arg558His | |
| NM_001256314.1:c.1292G>A | NP_001243243.1:p.Arg431His | |
| XR_938173.1:n.591+2045C>T | ||
| XR_938174.1:n.486+15062C>T | ||
| NM_000343.4:c.1673G>A MANE Select | NP_000334.1:p.Arg558His | |
| NM_001256314.2:c.1292G>A | NP_001243243.1:p.Arg431His |