Linked Data
ClinVar Variation Id:
402159
ClinVar RCV Id:
RCV000454243
dbSNP Id:
rs563069739
ExAC:
17:38612756 C / T
gnomAD v2:
17-38612756-C-T
gnomAD v3:
17-40456504-C-T
gnomAD v4:
17-40456504-C-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40456504C>T , CM000679.2:g.40456504C>T | GRCh38 |
| NC_000017.10:g.38612756C>T , CM000679.1:g.38612756C>T | GRCh37 |
| NC_000017.9:g.35866282C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269593.5:c.698C>T MANE Select | ENSP00000269593.4:p.Thr233Met | |
| ENST00000269593.4:c.698C>T | ENSP00000269593.4:p.Thr233Met | |
| NM_001552.2:c.698C>T | NP_001543.2:p.Thr233Met | |
| NM_001552.3:c.698C>T MANE Select | NP_001543.2:p.Thr233Met |