Linked Data
ClinVar Variation Id:
497266
dbSNP Id:
rs138589242
ExAC:
11:46916832 T / C
gnomAD v2:
11-46916832-T-C
gnomAD v3:
11-46895281-T-C
gnomAD v4:
11-46895281-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46895281T>C , CM000673.2:g.46895281T>C | GRCh38 |
| NC_000011.9:g.46916832T>C , CM000673.1:g.46916832T>C | GRCh37 |
| NC_000011.8:g.46873408T>C | NCBI36 |
| NG_021394.1:g.28342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.1194A>G MANE Select | ENSP00000367888.1:p.Glu398= | |
| ENST00000378623.5:c.1194A>G | ENSP00000367888.1:p.Glu398= | |
| NM_002334.3:c.1194A>G | NP_002325.2:p.Glu398= | |
| XM_011520102.1:c.1407A>G | XP_011518404.1:p.Glu469= | |
| XM_011520103.1:c.390A>G | XP_011518405.1:p.Glu130= | |
| XM_011520103.2:c.390A>G | XP_011518405.1:p.Glu130= | |
| XM_017017734.1:c.1194A>G | XP_016873223.1:p.Glu398= | |
| NM_002334.4:c.1194A>G MANE Select | NP_002325.2:p.Glu398= |