Linked Data
dbSNP Id:
rs10502001
ExAC:
11:102398593 C / T
gnomAD v2:
11-102398593-C-T
gnomAD v3:
11-102527862-C-T
gnomAD v4:
11-102527862-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527862C>T , CM000673.2:g.102527862C>T | GRCh38 |
| NC_000011.9:g.102398593C>T , CM000673.1:g.102398593C>T | GRCh37 |
| NC_000011.8:g.101903803C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260227.5:c.230G>A MANE Select | ENSP00000260227.4:p.Arg77His | |
| ENST00000260227.4:c.230G>A | ENSP00000260227.4:p.Arg77His | |
| ENST00000531200.1:n.277G>A | ||
| ENST00000533366.5:n.280G>A | ||
| NM_002423.3:c.230G>A | NP_002414.1:p.Arg77His | |
| NM_002423.4:c.230G>A | NP_002414.1:p.Arg77His | |
| NM_002423.5:c.230G>A MANE Select | NP_002414.1:p.Arg77His |