Linked Data
ClinVar Variation Id:
566847
ClinVar RCV Id:
RCV000686772
dbSNP Id:
rs910072879
gnomAD v2:
12-5153419-T-A
gnomAD v3:
12-5044253-T-A
gnomAD v4:
12-5044253-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044253T>A , CM000674.2:g.5044253T>A | GRCh38 |
| NC_000012.11:g.5153419T>A , CM000674.1:g.5153419T>A | GRCh37 |
| NC_000012.10:g.5023680T>A | NCBI36 |
| NG_012198.1:g.5335T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.106T>A MANE Select | ENSP00000252321.3:p.Cys36Ser | |
| ENST00000252321.4:c.106T>A | ENSP00000252321.3:p.Cys36Ser | |
| NM_002234.3:c.106T>A | NP_002225.2:p.Cys36Ser | |
| NM_002234.4:c.106T>A MANE Select | NP_002225.2:p.Cys36Ser |