Linked Data
ClinVar Variation Id:
1326473
ClinVar RCV Id:
RCV001786653
dbSNP Id:
rs181560356
gnomAD v2:
17-14112121-C-T
gnomAD v3:
17-14208804-C-T
gnomAD v4:
17-14208804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208804C>T , CM000679.2:g.14208804C>T | GRCh38 |
| NC_000017.10:g.14112121C>T , CM000679.1:g.14112121C>T | GRCh37 |
| NC_000017.9:g.14052846C>T | NCBI36 |
| NG_008034.1:g.144403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000664217.1:c.*281+25C>T | ENSP00000499396.1:n.*281+25C>T | |
| ENST00000670279.1:c.929-705C>T | ENSP00000499450.1:n.929-705C>T | |
| XR_933974.1:n.1032-705C>T |