Linked Data
ClinVar Variation Id:
1805321
ClinVar RCV Id:
RCV002471739
dbSNP Id:
rs1233858324
gnomAD v4:
9-99221603-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221603C>T , CM000671.2:g.99221603C>T | GRCh38 |
| NC_000009.11:g.101983885C>T , CM000671.1:g.101983885C>T | GRCh37 |
| NC_000009.10:g.101023706C>T | NCBI36 |
| NG_008928.1:g.5362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.292G>A MANE Select | ENSP00000417764.1:p.Ala98Thr | |
| ENST00000238477.5:c.292G>A | ENSP00000432675.2:p.Ala98Thr | |
| ENST00000476832.1:c.292G>A | ENSP00000417764.1:p.Ala98Thr | |
| NM_033087.3:c.292G>A | NP_149078.1:p.Ala98Thr | |
| NR_024532.1:n.362G>A | ||
| NM_033087.4:c.292G>A MANE Select | NP_149078.1:p.Ala98Thr | |
| NR_024532.2:n.340G>A |