Linked Data
ClinVar Variation Id:
309989
ClinVar RCV Id:
RCV000309907
dbSNP Id:
rs886049721
gnomAD v3:
12-57762670-G-T
gnomAD v4:
12-57762670-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57762670G>T , CM000674.2:g.57762670G>T | GRCh38 |
| NC_000012.11:g.58156453G>T , CM000674.1:g.58156453G>T | GRCh37 |
| NC_000012.10:g.56442720G>T | NCBI36 |
| NG_007076.1:g.9524C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.*472C>A | ENSP00000518840.1:n.*472C>A | |
| ENST00000713545.1:c.*1004C>A | ENSP00000518841.1:n.*1004C>A | |
| ENST00000228606.9:c.*472C>A MANE Select | ENSP00000228606.4:n.*472C>A | |
| ENST00000228606.8:c.*472C>A | ENSP00000228606.4:n.*472C>A | |
| ENST00000547344.5:n.2138C>A | ||
| NM_000785.3:c.*472C>A | NP_000776.1:n.*472C>A | |
| NM_000785.4:c.*472C>A MANE Select | NP_000776.1:n.*472C>A |