Linked Data
dbSNP Id:
rs61753256
ExAC:
11:88911467 C / A
gnomAD v2:
11-88911467-C-A
gnomAD v4:
11-89178299-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178299C>A , CM000673.2:g.89178299C>A | GRCh38 |
| NC_000011.9:g.88911467C>A , CM000673.1:g.88911467C>A | GRCh37 |
| NC_000011.8:g.88551115C>A | NCBI36 |
| NG_008748.1:g.5428C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.346C>A MANE Select | ENSP00000263321.4:p.Arg116= | |
| ENST00000263321.5:c.346C>A | ENSP00000263321.4:p.Arg116= | |
| ENST00000526139.1:n.407C>A | ||
| NM_000372.4:c.346C>A | NP_000363.1:p.Arg116= | |
| XM_011542970.1:c.346C>A | XP_011541272.1:p.Arg116= | |
| XM_011542970.2:c.346C>A | XP_011541272.1:p.Arg116= | |
| XR_001748321.1:n.2718-64766G>T | ||
| XR_001748322.1:n.2733-64766G>T | ||
| NM_000372.5:c.346C>A MANE Select | NP_000363.1:p.Arg116= |