Linked Data
ClinVar Variation Id:
2098053
ClinVar RCV Id:
RCV003019101
dbSNP Id:
rs779868828
gnomAD v3:
1-94008230-C-T
gnomAD v4:
1-94008230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008230C>T , CM000663.2:g.94008230C>T | GRCh38 |
| NC_000001.10:g.94473786C>T , CM000663.1:g.94473786C>T | GRCh37 |
| NC_000001.9:g.94246374C>T | NCBI36 |
| NG_009073.1:g.117920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5898+5G>A MANE Select | ENSP00000359245.3:n.5898+5G>A | |
| ENST00000370225.3:c.5898+5G>A | ENSP00000359245.3:n.5898+5G>A | |
| ENST00000465352.1:n.314+5G>A | ||
| ENST00000536513.5:c.2274+5G>A | ENSP00000439707.2:n.2274+5G>A | |
| NM_000350.2:c.5898+5G>A | NP_000341.2:n.5898+5G>A | |
| NM_000350.3:c.5898+5G>A MANE Select | NP_000341.2:n.5898+5G>A |