Linked Data
ClinVar Variation Id:
13034
dbSNP Id:
rs104893781
gnomAD v4:
3-129532636-C-T
PubMed:
PMID:1897520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532636C>T , CM000665.2:g.129532636C>T | GRCh38 |
| NC_000003.11:g.129251479C>T , CM000665.1:g.129251479C>T | GRCh37 |
| NC_000003.10:g.130734169C>T | NCBI36 |
| NG_009115.1:g.8998C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.800C>T MANE Select | ENSP00000296271.3:p.Pro267Leu | |
| ENST00000296271.3:c.800C>T | ENSP00000296271.3:p.Pro267Leu | |
| NM_000539.3:c.800C>T MANE Select | NP_000530.1:p.Pro267Leu |