Linked Data
ClinVar Variation Id:
535807
dbSNP Id:
rs145460760
ExAC:
11:46900813 C / T
gnomAD v2:
11-46900813-C-T
gnomAD v3:
11-46879262-C-T
gnomAD v4:
11-46879262-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46879262C>T , CM000673.2:g.46879262C>T | GRCh38 |
| NC_000011.9:g.46900813C>T , CM000673.1:g.46900813C>T | GRCh37 |
| NC_000011.8:g.46857389C>T | NCBI36 |
| NG_021394.1:g.44361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.2868G>A MANE Select | ENSP00000367888.1:p.Glu956= | |
| ENST00000378623.5:c.2868G>A | ENSP00000367888.1:p.Glu956= | |
| NM_002334.3:c.2868G>A | NP_002325.2:p.Glu956= | |
| XM_011520102.1:c.3081G>A | XP_011518404.1:p.Glu1027= | |
| XM_011520103.1:c.2064G>A | XP_011518405.1:p.Glu688= | |
| XM_011520104.1:c.633G>A | XP_011518406.1:p.Glu211= | |
| XM_011520103.2:c.2064G>A | XP_011518405.1:p.Glu688= | |
| XM_011520104.2:c.633G>A | XP_011518406.1:p.Glu211= | |
| XM_017017734.1:c.2868G>A | XP_016873223.1:p.Glu956= | |
| NM_002334.4:c.2868G>A MANE Select | NP_002325.2:p.Glu956= |