Linked Data
ClinVar Variation Id:
910545
ClinVar RCV Id:
RCV001162394
dbSNP Id:
rs767981135
gnomAD v2:
8-19824614-G-A
gnomAD v3:
8-19967103-G-A
gnomAD v4:
8-19967103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967103G>A , CM000670.2:g.19967103G>A | GRCh38 |
| NC_000008.10:g.19824614G>A , CM000670.1:g.19824614G>A | GRCh37 |
| NC_000008.9:g.19868894G>A | NCBI36 |
| NG_008855.1:g.33033G>A | |
| NG_008855.2:g.70387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1793G>A MANE Select | ENSP00000497642.1:n.*1793G>A | |
| ENST00000650478.1:c.2161G>A | ENSP00000497560.1:n.2161G>A | |
| ENST00000311322.8:c.*1793G>A | ENSP00000309757.6:n.*1793G>A | |
| NM_000237.2:c.*1793G>A | NP_000228.1:n.*1793G>A | |
| NM_000237.3:c.*1793G>A MANE Select | NP_000228.1:n.*1793G>A |