Linked Data
ClinVar Variation Id:
2581562
ClinVar RCV Id:
RCV003331967
dbSNP Id:
rs41479347
gnomAD v2:
16-223539-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173540C>A , CM000678.2:g.173540C>A | GRCh38 |
| NC_000016.9:g.223539C>A , CM000678.1:g.223539C>A | GRCh37 |
| NC_000016.8:g.163539C>A | NCBI36 |
| NG_000006.1:g.34403C>A | |
| NG_059186.1:g.1890C>A | |
| NG_059271.1:g.5694C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.369C>A MANE Select | ENSP00000251595.6:p.His123Gln | |
| ENST00000251595.10:c.369C>A | ENSP00000251595.6:p.His123Gln | |
| ENST00000397806.1:c.273C>A | ENSP00000380908.1:p.His91Gln | |
| ENST00000482565.1:n.505C>A | ||
| NM_000517.4:c.369C>A | NP_000508.1:p.His123Gln | |
| NM_000517.6:c.369C>A MANE Select | NP_000508.1:p.His123Gln |