Linked Data
ClinVar Variation Id:
309339
ClinVar RCV Id:
RCV000390364
dbSNP Id:
rs147209278
ExAC:
12:5154642 C / T
gnomAD v2:
12-5154642-C-T
gnomAD v3:
12-5045476-C-T
gnomAD v4:
12-5045476-C-T
COSMIC:
COSM940460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045476C>T , CM000674.2:g.5045476C>T | GRCh38 |
| NC_000012.11:g.5154642C>T , CM000674.1:g.5154642C>T | GRCh37 |
| NC_000012.10:g.5024903C>T | NCBI36 |
| NG_012198.1:g.6558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1329C>T MANE Select | ENSP00000252321.3:p.Ile443= | |
| ENST00000252321.4:c.1329C>T | ENSP00000252321.3:p.Ile443= | |
| NM_002234.3:c.1329C>T | NP_002225.2:p.Ile443= | |
| NM_002234.4:c.1329C>T MANE Select | NP_002225.2:p.Ile443= |