Linked Data
ClinVar Variation Id:
99135
dbSNP Id:
rs61750202
ExAC:
1:94520801 C / T
gnomAD v2:
1-94520801-C-T
gnomAD v3:
1-94055245-C-T
gnomAD v4:
1-94055245-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94055245C>T , CM000663.2:g.94055245C>T | GRCh38 |
| NC_000001.10:g.94520801C>T , CM000663.1:g.94520801C>T | GRCh37 |
| NC_000001.9:g.94293389C>T | NCBI36 |
| NG_009073.1:g.70905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2453G>A MANE Select | ENSP00000359245.3:p.Gly818Glu | |
| ENST00000649773.1:c.2231G>A | ENSP00000496882.1:p.Gly744Glu | |
| ENST00000370225.3:c.2453G>A | ENSP00000359245.3:p.Gly818Glu | |
| ENST00000536513.5:c.-65+7929G>A | ENSP00000439707.2:n.-65+7929G>A | |
| NM_000350.2:c.2453G>A | NP_000341.2:p.Gly818Glu | |
| NM_000350.3:c.2453G>A MANE Select | NP_000341.2:p.Gly818Glu |