Linked Data
ClinVar Variation Id:
887735
ClinVar RCV Id:
RCV001120646
dbSNP Id:
rs2272420
gnomAD v2:
16-67198590-C-T
gnomAD v3:
16-67164687-C-T
gnomAD v4:
16-67164687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67164687C>T , CM000678.2:g.67164687C>T | GRCh38 |
| NC_000016.9:g.67198590C>T , CM000678.1:g.67198590C>T | GRCh37 |
| NC_000016.8:g.65756091C>T | NCBI36 |
| NG_009294.1:g.6303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518227.1:c.518C>T | ||
| ENST00000518753.5:c.295+543C>T | ||
| ENST00000522870.5:n.7C>T | ||
| ENST00000523360.1:n.367C>T | ||
| ENST00000580114.5:c.841C>T | ||
| NM_001040667.2:c.-125C>T | NP_001035757.1:n.-125C>T | |
| NM_001538.3:c.-125C>T | NP_001529.2:n.-125C>T | |
| NM_001040667.3:c.-125C>T | NP_001035757.1:n.-125C>T | |
| NM_001538.4:c.-125C>T | NP_001529.2:n.-125C>T |