Linked Data
ClinVar Variation Id:
495743
dbSNP Id:
rs11542065
ExAC:
8:19805815 C / G
gnomAD v2:
8-19805815-C-G
gnomAD v3:
8-19948304-C-G
gnomAD v4:
8-19948304-C-G
PubMed:
PMID:26342331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19948304C>G , CM000670.2:g.19948304C>G | GRCh38 |
| NC_000008.10:g.19805815C>G , CM000670.1:g.19805815C>G | GRCh37 |
| NC_000008.9:g.19850095C>G | NCBI36 |
| NG_008855.1:g.14234C>G | |
| NG_008855.2:g.51588C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.213C>G MANE Select | ENSP00000497642.1:p.His71Gln | |
| ENST00000311322.8:c.213C>G | ENSP00000309757.6:p.His71Gln | |
| ENST00000520959.5:c.-16C>G | ENSP00000428496.1:n.-16C>G | |
| ENST00000521994.1:n.398C>G | ||
| ENST00000522701.5:c.213C>G | ENSP00000428557.1:p.His71Gln | |
| ENST00000523696.1:n.282C>G | ||
| ENST00000524029.5:c.213C>G | ENSP00000428237.1:p.His71Gln | |
| NM_000237.2:c.213C>G | NP_000228.1:p.His71Gln | |
| NM_000237.3:c.213C>G MANE Select | NP_000228.1:p.His71Gln |