Linked Data
ClinVar Variation Id:
2545020
ClinVar RCV Id:
RCV004314774
dbSNP Id:
rs147628815
ExAC:
5:125939305 C / T
gnomAD v2:
5-125939305-C-T
gnomAD v3:
5-126603613-C-T
gnomAD v4:
5-126603613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126603613C>T , CM000667.2:g.126603613C>T | GRCh38 |
| NC_000005.9:g.125939305C>T , CM000667.1:g.125939305C>T | GRCh37 |
| NC_000005.8:g.125967204C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297540.5:c.140C>T MANE Select | ENSP00000297540.4:p.Thr47Met | |
| ENST00000297540.4:c.140C>T | ENSP00000297540.4:p.Thr47Met | |
| ENST00000505674.5:n.53C>T | ||
| ENST00000514725.1:n.174C>T | ||
| NM_032177.3:c.140C>T | NP_115553.2:p.Thr47Met | |
| NM_032177.4:c.140C>T MANE Select | NP_115553.2:p.Thr47Met |