Linked Data
ClinVar Variation Id:
385674
ClinVar RCV Id:
RCV000420465
dbSNP Id:
rs201397873
ExAC:
16:21964713 G / T
gnomAD v2:
16-21964713-G-T
gnomAD v3:
16-21953392-G-T
gnomAD v4:
16-21953392-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21953392G>T , CM000678.2:g.21953392G>T | GRCh38 |
| NC_000016.9:g.21964713G>T , CM000678.1:g.21964713G>T | GRCh37 |
| NC_000016.8:g.21872214G>T | NCBI36 |
| NG_042228.1:g.5329G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268379.9:c.-32G>T MANE Select | ENSP00000268379.4:n.-32G>T | |
| ENST00000268379.8:c.-32G>T | ENSP00000268379.4:n.-32G>T | |
| ENST00000561553.5:c.-32G>T | ENSP00000456232.1:n.-32G>T | |
| ENST00000563898.5:c.-32G>T | ENSP00000456738.1:n.-32G>T | |
| ENST00000565331.5:c.-32G>T | ENSP00000455088.1:n.-32G>T | |
| ENST00000565464.5:c.-32G>T | ENSP00000457662.1:n.-32G>T | |
| ENST00000567757.1:n.22G>T | ||
| ENST00000630839.2:c.-32G>T | ENSP00000485966.1:n.-32G>T | |
| NM_003366.2:c.-32G>T | NP_003357.2:n.-32G>T | |
| NM_003366.3:c.-32G>T | NP_003357.2:n.-32G>T | |
| NM_003366.4:c.-32G>T MANE Select | NP_003357.2:n.-32G>T |