Linked Data
ClinVar Variation Id:
2137226
ClinVar RCV Id:
RCV003037424
dbSNP Id:
rs1464062644
gnomAD v2:
11-88911576-C-A
gnomAD v4:
11-89178408-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178408C>A , CM000673.2:g.89178408C>A | GRCh38 |
| NC_000011.9:g.88911576C>A , CM000673.1:g.88911576C>A | GRCh37 |
| NC_000011.8:g.88551224C>A | NCBI36 |
| NG_008748.1:g.5537C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.455C>A MANE Select | ENSP00000263321.4:p.Pro152His | |
| ENST00000263321.5:c.455C>A | ENSP00000263321.4:p.Pro152His | |
| ENST00000526139.1:n.516C>A | ||
| NM_000372.4:c.455C>A | NP_000363.1:p.Pro152His | |
| XM_011542970.1:c.455C>A | XP_011541272.1:p.Pro152His | |
| XM_011542970.2:c.455C>A | XP_011541272.1:p.Pro152His | |
| XR_001748321.1:n.2718-64875G>T | ||
| XR_001748322.1:n.2733-64875G>T | ||
| NM_000372.5:c.455C>A MANE Select | NP_000363.1:p.Pro152His |