Linked Data
ClinVar Variation Id:
363401
ClinVar RCV Id:
RCV000275991
dbSNP Id:
rs886063018
gnomAD v3:
8-56963779-G-A
gnomAD v4:
8-56963779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56963779G>A , CM000670.2:g.56963779G>A | GRCh38 |
| NC_000008.10:g.57876338G>A , CM000670.1:g.57876338G>A | GRCh37 |
| NC_000008.9:g.58038892G>A | NCBI36 |
| NG_031926.1:g.35093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262644.9:c.*14C>T MANE Select | ENSP00000262644.4:n.*14C>T | |
| ENST00000262644.8:c.*14C>T | ENSP00000262644.4:n.*14C>T | |
| NM_017813.4:c.*14C>T | NP_060283.3:n.*14C>T | |
| XR_928786.2:n.1492C>T | ||
| NM_017813.5:c.*14C>T MANE Select | NP_060283.3:n.*14C>T |