Linked Data
ClinVar Variation Id:
5346
ClinVar RCV Id:
RCV003555927
dbSNP Id:
rs121908423
ExAC:
13:33591156 A / G
gnomAD v2:
13-33591156-A-G
gnomAD v3:
13-33017018-A-G
gnomAD v4:
13-33017018-A-G
PubMed:
PMID:17710231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33017018A>G , CM000675.2:g.33017018A>G | GRCh38 |
| NC_000013.10:g.33591156A>G , CM000675.1:g.33591156A>G | GRCh37 |
| NC_000013.9:g.32489156A>G | NCBI36 |
| NG_011485.1:g.5586A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.578A>G MANE Select | ENSP00000369442.3:p.His193Arg | |
| ENST00000380099.3:c.578A>G | ENSP00000369442.3:p.His193Arg | |
| ENST00000487852.1:n.586A>G | ||
| NM_004795.3:c.578A>G | NP_004786.2:p.His193Arg | |
| XM_006719895.1:c.-103+705A>G | XP_006719958.1:n.-103+705A>G | |
| XM_006719895.2:c.-103+705A>G | XP_006719958.1:n.-103+705A>G | |
| NM_004795.4:c.578A>G MANE Select | NP_004786.2:p.His193Arg |