Linked Data
ClinVar Variation Id:
13469
ClinVar RCV Id:
RCV000014411
dbSNP Id:
rs121908590
gnomAD v4:
12-5045270-G-T
PubMed:
PMID:16772329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045270G>T , CM000674.2:g.5045270G>T | GRCh38 |
| NC_000012.11:g.5154436G>T , CM000674.1:g.5154436G>T | GRCh37 |
| NC_000012.10:g.5024697G>T | NCBI36 |
| NG_012198.1:g.6352G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.1123G>T MANE Select | ENSP00000252321.3:p.Glu375Ter | |
| ENST00000252321.4:c.1123G>T | ENSP00000252321.3:p.Glu375Ter | |
| NM_002234.3:c.1123G>T | NP_002225.2:p.Glu375Ter | |
| NM_002234.4:c.1123G>T MANE Select | NP_002225.2:p.Glu375Ter |