Linked Data
ClinVar Variation Id:
2134146
ClinVar RCV Id:
RCV003044788
dbSNP Id:
rs146117512
ExAC:
1:94506924 G / T
gnomAD v2:
1-94506924-G-T
gnomAD v4:
1-94041368-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041368G>T , CM000663.2:g.94041368G>T | GRCh38 |
| NC_000001.10:g.94506924G>T , CM000663.1:g.94506924G>T | GRCh37 |
| NC_000001.9:g.94279512G>T | NCBI36 |
| NG_009073.1:g.84782C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3363C>A MANE Select | ENSP00000359245.3:p.Asp1121Glu | |
| ENST00000370225.3:c.3363C>A | ENSP00000359245.3:p.Asp1121Glu | |
| ENST00000536513.5:c.-64-1279C>A | ENSP00000439707.2:n.-64-1279C>A | |
| NM_000350.2:c.3363C>A | NP_000341.2:p.Asp1121Glu | |
| NM_000350.3:c.3363C>A MANE Select | NP_000341.2:p.Asp1121Glu |