Linked Data
dbSNP Id:
rs753099090
ExAC:
11:88911690 G / A
gnomAD v2:
11-88911690-G-A
gnomAD v3:
11-89178522-G-A
gnomAD v4:
11-89178522-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178522G>A , CM000673.2:g.89178522G>A | GRCh38 |
| NC_000011.9:g.88911690G>A , CM000673.1:g.88911690G>A | GRCh37 |
| NC_000011.8:g.88551338G>A | NCBI36 |
| NG_008748.1:g.5651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.569G>A MANE Select | ENSP00000263321.4:p.Gly190Glu | |
| ENST00000263321.5:c.569G>A | ENSP00000263321.4:p.Gly190Glu | |
| ENST00000526139.1:n.630G>A | ||
| NM_000372.4:c.569G>A | NP_000363.1:p.Gly190Glu | |
| XM_011542970.1:c.569G>A | XP_011541272.1:p.Gly190Glu | |
| XM_011542970.2:c.569G>A | XP_011541272.1:p.Gly190Glu | |
| XR_001748321.1:n.2718-64989C>T | ||
| XR_001748322.1:n.2733-64989C>T | ||
| NM_000372.5:c.569G>A MANE Select | NP_000363.1:p.Gly190Glu |