Linked Data
ClinVar Variation Id:
2374065
ClinVar RCV Id:
RCV004215100
dbSNP Id:
rs192011438
ExAC:
19:17397289 C / A
gnomAD v2:
19-17397289-C-A
gnomAD v3:
19-17286480-C-A
gnomAD v4:
19-17286480-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17286480C>A , CM000681.2:g.17286480C>A | GRCh38 |
| NC_000019.9:g.17397289C>A , CM000681.1:g.17397289C>A | GRCh37 |
| NC_000019.8:g.17258289C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.1776C>A MANE Select | ENSP00000384008.3:p.His592Gln | |
| ENST00000404261.9:c.*362C>A | ENSP00000384753.6:n.*362C>A | |
| ENST00000594072.6:c.1698C>A | ENSP00000468845.4:p.His566Gln | |
| ENST00000651416.1:n.1915C>A | ||
| ENST00000652132.1:c.1665C>A | ENSP00000498416.1:p.His555Gln | |
| ENST00000394458.7:c.1938C>A | ENSP00000377971.4:p.His646Gln | |
| ENST00000404085.5:c.*1597C>A | ENSP00000384008.2:n.*1597C>A | |
| ENST00000404261.8:c.*362C>A | ENSP00000384753.5:n.*362C>A | |
| ENST00000594072.5:c.1860C>A | ENSP00000468845.3:p.His620Gln | |
| ENST00000596626.1:n.1889C>A | ||
| ENST00000598347.2:c.1561C>A | ||
| NM_001278443.1:c.1827C>A | NP_001265372.1:p.His609Gln | |
| NM_001278444.1:c.1721C>A | NP_001265373.1:p.Thr574Asn | |
| NM_001278445.1:c.1764C>A | NP_001265374.1:p.His588Gln | |
| NM_152363.5:c.1938C>A | NP_689576.5:p.His646Gln | |
| NR_103530.1:n.1796C>A | ||
| NM_001278443.2:c.1665C>A | NP_001265372.2:p.His555Gln | |
| NM_001278444.2:c.1559C>A | NP_001265373.2:p.Thr520Asn | |
| NM_001278445.2:c.1656C>A | NP_001265374.2:p.His552Gln | |
| NM_152363.6:c.1776C>A MANE Select | NP_689576.6:p.His592Gln | |
| NR_103530.2:n.1540C>A |