Linked Data
ClinVar Variation Id:
353054
ClinVar RCV Id:
RCV000296527
dbSNP Id:
rs886060485
gnomAD v3:
5-179111926-G-A
gnomAD v4:
5-179111926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179111926G>A , CM000667.2:g.179111926G>A | GRCh38 |
| NC_000005.9:g.178538927G>A , CM000667.1:g.178538927G>A | GRCh37 |
| NC_000005.8:g.178471533G>A | NCBI36 |
| NG_023212.2:g.238403C>T | |
| NG_023212.3:g.238403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.*1941C>T MANE Select | ENSP00000251582.7:n.*1941C>T | |
| ENST00000251582.11:c.*1941C>T | ENSP00000251582.7:n.*1941C>T | |
| NM_014244.4:c.*1941C>T | NP_055059.2:n.*1941C>T | |
| NM_014244.5:c.*1941C>T MANE Select | NP_055059.2:n.*1941C>T |