Linked Data
ClinVar Variation Id:
389372
ClinVar RCV Id:
RCV000439747
dbSNP Id:
rs368981931
ExAC:
16:21964710 C / T
gnomAD v2:
16-21964710-C-T
gnomAD v3:
16-21953389-C-T
gnomAD v4:
16-21953389-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21953389C>T , CM000678.2:g.21953389C>T | GRCh38 |
| NC_000016.9:g.21964710C>T , CM000678.1:g.21964710C>T | GRCh37 |
| NC_000016.8:g.21872211C>T | NCBI36 |
| NG_042228.1:g.5326C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268379.9:c.-35C>T MANE Select | ENSP00000268379.4:n.-35C>T | |
| ENST00000268379.8:c.-35C>T | ENSP00000268379.4:n.-35C>T | |
| ENST00000561553.5:c.-35C>T | ENSP00000456232.1:n.-35C>T | |
| ENST00000563898.5:c.-35C>T | ENSP00000456738.1:n.-35C>T | |
| ENST00000565331.5:c.-35C>T | ENSP00000455088.1:n.-35C>T | |
| ENST00000565464.5:c.-35C>T | ENSP00000457662.1:n.-35C>T | |
| ENST00000567757.1:n.19C>T | ||
| ENST00000630839.2:c.-35C>T | ENSP00000485966.1:n.-35C>T | |
| NM_003366.2:c.-35C>T | NP_003357.2:n.-35C>T | |
| NM_003366.3:c.-35C>T | NP_003357.2:n.-35C>T | |
| NM_003366.4:c.-35C>T MANE Select | NP_003357.2:n.-35C>T |