Linked Data
dbSNP Id:
rs189051845
ExAC:
11:102398522 T / A
gnomAD v2:
11-102398522-T-A
gnomAD v3:
11-102527791-T-A
gnomAD v4:
11-102527791-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527791T>A , CM000673.2:g.102527791T>A | GRCh38 |
| NC_000011.9:g.102398522T>A , CM000673.1:g.102398522T>A | GRCh37 |
| NC_000011.8:g.101903732T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.301A>T MANE Select | ENSP00000260227.4:p.Ser101Cys | |
| ENST00000260227.4:c.301A>T | ENSP00000260227.4:p.Ser101Cys | |
| ENST00000531200.1:n.348A>T | ||
| ENST00000533366.5:n.351A>T | ||
| NM_002423.3:c.301A>T | NP_002414.1:p.Ser101Cys | |
| NM_002423.4:c.301A>T | NP_002414.1:p.Ser101Cys | |
| NM_002423.5:c.301A>T MANE Select | NP_002414.1:p.Ser101Cys |