Linked Data
ClinVar Variation Id:
1135632
ClinVar RCV Id:
RCV001470971
dbSNP Id:
rs890637108
gnomAD v2:
5-45461966-C-T
gnomAD v3:
5-45461864-C-T
gnomAD v4:
5-45461864-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45461864C>T , CM000667.2:g.45461864C>T | GRCh38 |
| NC_000005.9:g.45461966C>T , CM000667.1:g.45461966C>T | GRCh37 |
| NC_000005.8:g.45497723C>T | NCBI36 |
| NG_042183.1:g.239255G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.993G>A MANE Select | ENSP00000307342.4:p.Val331= | |
| ENST00000637305.1:n.156G>A | ||
| ENST00000673735.1:c.993G>A | ENSP00000501107.1:p.Val331= | |
| ENST00000303230.5:c.993G>A | ENSP00000307342.4:p.Val331= | |
| NM_021072.3:c.993G>A | NP_066550.2:p.Val331= | |
| NM_021072.4:c.993G>A MANE Select | NP_066550.2:p.Val331= |