Linked Data
ClinVar Variation Id:
2679409
dbSNP Id:
rs778881311
ExAC:
11:88911728 G / T
gnomAD v2:
11-88911728-G-T
gnomAD v3:
11-89178560-G-T
gnomAD v4:
11-89178560-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178560G>T , CM000673.2:g.89178560G>T | GRCh38 |
| NC_000011.9:g.88911728G>T , CM000673.1:g.88911728G>T | GRCh37 |
| NC_000011.8:g.88551376G>T | NCBI36 |
| NG_008748.1:g.5689G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.607G>T MANE Select | ENSP00000263321.4:p.Glu203Ter | |
| ENST00000263321.5:c.607G>T | ENSP00000263321.4:p.Glu203Ter | |
| ENST00000526139.1:n.668G>T | ||
| NM_000372.4:c.607G>T | NP_000363.1:p.Glu203Ter | |
| XM_011542970.1:c.607G>T | XP_011541272.1:p.Glu203Ter | |
| XM_011542970.2:c.607G>T | XP_011541272.1:p.Glu203Ter | |
| XR_001748321.1:n.2718-65027C>A | ||
| XR_001748322.1:n.2733-65027C>A | ||
| NM_000372.5:c.607G>T MANE Select | NP_000363.1:p.Glu203Ter |