Linked Data
ClinVar Variation Id:
429032
ClinVar RCV Id:
RCV000493884
dbSNP Id:
rs243865
gnomAD v2:
16-55511806-C-T
gnomAD v3:
16-55477894-C-T
gnomAD v4:
16-55477894-C-T
PubMed:
PMID:28595731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55477894C>T , CM000678.2:g.55477894C>T | GRCh38 |
| NC_000016.9:g.55511806C>T , CM000678.1:g.55511806C>T | GRCh37 |
| NC_000016.8:g.54069307C>T | NCBI36 |
| NG_008989.1:g.3726C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570308.5:c.-75-5015C>T | ENSP00000461421.1:n.-75-5015C>T |