Linked Data
ClinVar Variation Id:
439771
ClinVar RCV Id:
RCV002282188
RCV003147493
RCV003147492
RCV002476016
RCV000985723
RCV001275681
RCV003147491
dbSNP Id:
rs41479347
ExAC:
16:223539 C / G
gnomAD v2:
16-223539-C-G
gnomAD v3:
16-173540-C-G
gnomAD v4:
16-173540-C-G
COSMIC:
COSM4578821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173540C>G , CM000678.2:g.173540C>G | GRCh38 |
| NC_000016.9:g.223539C>G , CM000678.1:g.223539C>G | GRCh37 |
| NC_000016.8:g.163539C>G | NCBI36 |
| NG_000006.1:g.34403C>G | |
| NG_059186.1:g.1890C>G | |
| NG_059271.1:g.5694C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.369C>G MANE Select | ENSP00000251595.6:p.His123Gln | |
| ENST00000251595.10:c.369C>G | ENSP00000251595.6:p.His123Gln | |
| ENST00000397806.1:c.273C>G | ENSP00000380908.1:p.His91Gln | |
| ENST00000482565.1:n.505C>G | ||
| NM_000517.4:c.369C>G | NP_000508.1:p.His123Gln | |
| NM_000517.6:c.369C>G MANE Select | NP_000508.1:p.His123Gln |