Linked Data
ClinVar Variation Id:
91920
ClinVar RCV Id:
RCV000122477
dbSNP Id:
rs386352325
gnomAD v4:
6-104957255-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104957255C>A , CM000668.2:g.104957255C>A | GRCh38 |
| NC_000006.11:g.105405130C>A , CM000668.1:g.105405130C>A | GRCh37 |
| NC_000006.10:g.105511823C>A | NCBI36 |
| NG_032815.1:g.5208C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345080.5:c.5C>A MANE Select | ENSP00000344401.4:p.Ala2Asp | |
| ENST00000635857.1:c.68-844C>A | ENSP00000489735.1:n.68-844C>A | |
| ENST00000637759.1:c.35-844C>A | ENSP00000490468.1:n.35-844C>A | |
| ENST00000345080.4:c.5C>A | ENSP00000344401.4:p.Ala2Asp | |
| NM_001004317.3:c.5C>A | NP_001004317.1:p.Ala2Asp | |
| XM_006715477.2:c.68-844C>A | XP_006715540.2:n.68-844C>A | |
| XM_011535818.1:c.35-844C>A | XP_011534120.1:n.35-844C>A | |
| XM_011535818.3:c.35-844C>A | XP_011534120.1:n.35-844C>A | |
| NM_001004317.4:c.5C>A MANE Select | NP_001004317.1:p.Ala2Asp |