Linked Data
ClinVar Variation Id:
530573
ClinVar RCV Id:
RCV000636489
dbSNP Id:
rs765966511
gnomAD v4:
5-45645615-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645615C>A , CM000667.2:g.45645615C>A | GRCh38 |
| NC_000005.9:g.45645717C>A , CM000667.1:g.45645717C>A | GRCh37 |
| NC_000005.8:g.45681474C>A | NCBI36 |
| NG_042183.1:g.55504G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.426-7G>T MANE Select | ENSP00000307342.4:n.426-7G>T | |
| ENST00000673735.1:c.426-7G>T | ENSP00000501107.1:n.426-7G>T | |
| ENST00000303230.5:c.426-7G>T | ENSP00000307342.4:n.426-7G>T | |
| ENST00000634658.1:c.426-7G>T | ENSP00000489134.1:n.426-7G>T | |
| NM_021072.3:c.426-7G>T | NP_066550.2:n.426-7G>T | |
| NM_021072.4:c.426-7G>T MANE Select | NP_066550.2:n.426-7G>T |