Linked Data
ClinVar Variation Id:
13050
dbSNP Id:
rs104893794
gnomAD v2:
3-129249868-C-T
gnomAD v4:
3-129531025-C-T
PubMed:
PMID:8088850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531025C>T , CM000665.2:g.129531025C>T | GRCh38 |
| NC_000003.11:g.129249868C>T , CM000665.1:g.129249868C>T | GRCh37 |
| NC_000003.10:g.130732558C>T | NCBI36 |
| NG_009115.1:g.7387C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.511C>T MANE Select | ENSP00000296271.3:p.Pro171Ser | |
| ENST00000296271.3:c.511C>T | ENSP00000296271.3:p.Pro171Ser | |
| NM_000539.3:c.511C>T MANE Select | NP_000530.1:p.Pro171Ser |