Linked Data
dbSNP Id:
rs764281296
ExAC:
11:102398403 C / T
gnomAD v2:
11-102398403-C-T
gnomAD v3:
11-102527672-C-T
gnomAD v4:
11-102527672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527672C>T , CM000673.2:g.102527672C>T | GRCh38 |
| NC_000011.9:g.102398403C>T , CM000673.1:g.102398403C>T | GRCh37 |
| NC_000011.8:g.101903613C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.336G>A MANE Select | ENSP00000260227.4:p.Arg112= | |
| ENST00000260227.4:c.336G>A | ENSP00000260227.4:p.Arg112= | |
| ENST00000531200.1:n.383G>A | ||
| ENST00000533366.5:n.386G>A | ||
| NM_002423.3:c.336G>A | NP_002414.1:p.Arg112= | |
| NM_002423.4:c.336G>A | NP_002414.1:p.Arg112= | |
| NM_002423.5:c.336G>A MANE Select | NP_002414.1:p.Arg112= |