Linked Data
ClinVar Variation Id:
1932872
ClinVar RCV Id:
RCV002635593
dbSNP Id:
rs765728211
ExAC:
5:45462101 G / A
gnomAD v2:
5-45462101-G-A
gnomAD v3:
5-45461999-G-A
gnomAD v4:
5-45461999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461999G>A , CM000667.2:g.45461999G>A | GRCh38 |
| NC_000005.9:g.45462101G>A , CM000667.1:g.45462101G>A | GRCh37 |
| NC_000005.8:g.45497858G>A | NCBI36 |
| NG_042183.1:g.239120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.858C>T MANE Select | ENSP00000307342.4:p.His286= | |
| ENST00000637305.1:n.21C>T | ||
| ENST00000673735.1:c.858C>T | ENSP00000501107.1:p.His286= | |
| ENST00000303230.5:c.858C>T | ENSP00000307342.4:p.His286= | |
| NM_021072.3:c.858C>T | NP_066550.2:p.His286= | |
| NM_021072.4:c.858C>T MANE Select | NP_066550.2:p.His286= |