Linked Data
ClinVar Variation Id:
204132
ClinVar RCV Id:
RCV000186338
dbSNP Id:
rs180177284
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240876004G>C , CM000664.2:g.240876004G>C | GRCh38 |
| NC_000002.11:g.241815421G>C , CM000664.1:g.241815421G>C | GRCh37 |
| NC_000002.10:g.241464094G>C | NCBI36 |
| NG_008005.1:g.12260G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.846G>C MANE Select | ENSP00000302620.3:p.Gln282His | |
| ENST00000307503.3:c.846G>C | ENSP00000302620.3:p.Gln282His | |
| ENST00000476698.1:n.498G>C | ||
| NM_000030.2:c.846G>C | NP_000021.1:p.Gln282His | |
| NM_000030.3:c.846G>C MANE Select | NP_000021.1:p.Gln282His |