Linked Data
ClinVar Variation Id:
1151799
ClinVar RCV Id:
RCV001492872
dbSNP Id:
rs1054399439
gnomAD v3:
5-45645612-C-T
gnomAD v4:
5-45645612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645612C>T , CM000667.2:g.45645612C>T | GRCh38 |
| NC_000005.9:g.45645714C>T , CM000667.1:g.45645714C>T | GRCh37 |
| NC_000005.8:g.45681471C>T | NCBI36 |
| NG_042183.1:g.55507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.426-4G>A MANE Select | ENSP00000307342.4:n.426-4G>A | |
| ENST00000673735.1:c.426-4G>A | ENSP00000501107.1:n.426-4G>A | |
| ENST00000303230.5:c.426-4G>A | ENSP00000307342.4:n.426-4G>A | |
| ENST00000634658.1:c.426-4G>A | ENSP00000489134.1:n.426-4G>A | |
| NM_021072.3:c.426-4G>A | NP_066550.2:n.426-4G>A | |
| NM_021072.4:c.426-4G>A MANE Select | NP_066550.2:n.426-4G>A |