Linked Data
ClinVar Variation Id:
1638350
ClinVar RCV Id:
RCV002134033
dbSNP Id:
rs112267653
ExAC:
11:88911685 G / A
gnomAD v3:
11-89178517-G-A
gnomAD v4:
11-89178517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178517G>A , CM000673.2:g.89178517G>A | GRCh38 |
| NC_000011.9:g.88911685G>A , CM000673.1:g.88911685G>A | GRCh37 |
| NC_000011.8:g.88551333G>A | NCBI36 |
| NG_008748.1:g.5646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.564G>A MANE Select | ENSP00000263321.4:p.Leu188= | |
| ENST00000263321.5:c.564G>A | ENSP00000263321.4:p.Leu188= | |
| ENST00000526139.1:n.625G>A | ||
| NM_000372.4:c.564G>A | NP_000363.1:p.Leu188= | |
| XM_011542970.1:c.564G>A | XP_011541272.1:p.Leu188= | |
| XM_011542970.2:c.564G>A | XP_011541272.1:p.Leu188= | |
| XR_001748321.1:n.2718-64984C>T | ||
| XR_001748322.1:n.2733-64984C>T | ||
| NM_000372.5:c.564G>A MANE Select | NP_000363.1:p.Leu188= |