Linked Data
ClinVar Variation Id:
303335
dbSNP Id:
rs35466065
ExAC:
11:124794793 C / T
gnomAD v2:
11-124794793-C-T
gnomAD v3:
11-124924897-C-T
gnomAD v4:
11-124924897-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124924897C>T , CM000673.2:g.124924897C>T | GRCh38 |
| NC_000011.9:g.124794793C>T , CM000673.1:g.124794793C>T | GRCh37 |
| NC_000011.8:g.124300003C>T | NCBI36 |
| NG_029603.1:g.16516G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703807.1:c.258G>A | ENSP00000515485.1:p.Glu86= | |
| ENST00000298251.5:c.258G>A MANE Select | ENSP00000298251.4:p.Glu86= | |
| ENST00000298251.4:c.258G>A | ENSP00000298251.4:p.Glu86= | |
| ENST00000526273.1:n.30G>A | ||
| ENST00000528971.1:n.664G>A | ||
| NM_152722.4:c.258G>A | NP_689935.2:p.Glu86= | |
| XM_005271449.1:c.258G>A | XP_005271506.1:p.Glu86= | |
| XM_006718786.1:c.258G>A | XP_006718849.1:p.Glu86= | |
| XM_011542669.1:c.258G>A | XP_011540971.1:p.Glu86= | |
| XM_005271449.2:c.258G>A | XP_005271506.1:p.Glu86= | |
| XM_017017361.1:c.258G>A | XP_016872850.1:p.Glu86= | |
| XR_001748429.2:n.325-18503C>T | ||
| NM_152722.5:c.258G>A MANE Select | NP_689935.2:p.Glu86= |