Linked Data
ClinVar Variation Id:
2060544
ClinVar RCV Id:
RCV002938814
dbSNP Id:
rs778827696
ExAC:
11:88911772 G / A
gnomAD v2:
11-88911772-G-A
gnomAD v3:
11-89178604-G-A
gnomAD v4:
11-89178604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178604G>A , CM000673.2:g.89178604G>A | GRCh38 |
| NC_000011.9:g.88911772G>A , CM000673.1:g.88911772G>A | GRCh37 |
| NC_000011.8:g.88551420G>A | NCBI36 |
| NG_008748.1:g.5733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.651G>A MANE Select | ENSP00000263321.4:p.Arg217= | |
| ENST00000263321.5:c.651G>A | ENSP00000263321.4:p.Arg217= | |
| ENST00000526139.1:n.712G>A | ||
| NM_000372.4:c.651G>A | NP_000363.1:p.Arg217= | |
| XM_011542970.1:c.651G>A | XP_011541272.1:p.Arg217= | |
| XM_011542970.2:c.651G>A | XP_011541272.1:p.Arg217= | |
| XR_001748321.1:n.2718-65071C>T | ||
| XR_001748322.1:n.2733-65071C>T | ||
| NM_000372.5:c.651G>A MANE Select | NP_000363.1:p.Arg217= |