Linked Data
ClinVar Variation Id:
567442
ClinVar RCV Id:
RCV000687530
dbSNP Id:
rs941593352
gnomAD v2:
9-101983909-C-A
gnomAD v3:
9-99221627-C-A
gnomAD v4:
9-99221627-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221627C>A , CM000671.2:g.99221627C>A | GRCh38 |
| NC_000009.11:g.101983909C>A , CM000671.1:g.101983909C>A | GRCh37 |
| NC_000009.10:g.101023730C>A | NCBI36 |
| NG_008928.1:g.5338G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.268G>T MANE Select | ENSP00000417764.1:p.Ala90Ser | |
| ENST00000238477.5:c.268G>T | ENSP00000432675.2:p.Ala90Ser | |
| ENST00000476832.1:c.268G>T | ENSP00000417764.1:p.Ala90Ser | |
| NM_033087.3:c.268G>T | NP_149078.1:p.Ala90Ser | |
| NR_024532.1:n.338G>T | ||
| NM_033087.4:c.268G>T MANE Select | NP_149078.1:p.Ala90Ser | |
| NR_024532.2:n.316G>T |