Linked Data
ClinVar Variation Id:
15564
ClinVar RCV Id:
RCV000016830
dbSNP Id:
rs34188626
PubMed:
PMID:9494046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225646C>G , CM000673.2:g.5225646C>G | GRCh38 |
| NC_000011.9:g.5246876C>G , CM000673.1:g.5246876C>G | GRCh37 |
| NC_000011.8:g.5203452C>G | NCBI36 |
| NG_000007.3:g.71970G>C | |
| NG_059281.1:g.6426G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.396G>C | ENSP00000494175.1:p.Gln132His | |
| ENST00000335295.4:c.396G>C MANE Select | ENSP00000333994.3:p.Gln132His | |
| ENST00000633227.1:c.*212G>C | ENSP00000488004.1:n.*212G>C | |
| NM_000518.4:c.396G>C | NP_000509.1:p.Gln132His | |
| NM_000518.5:c.396G>C MANE Select | NP_000509.1:p.Gln132His |