Linked Data
ClinVar Variation Id:
725300
ClinVar RCV Id:
RCV000899338
dbSNP Id:
rs147534254
ExAC:
14:102028664 C / T
gnomAD v2:
14-102028664-C-T
gnomAD v3:
14-101562327-C-T
gnomAD v4:
14-101562327-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.101562327C>T , CM000676.2:g.101562327C>T | GRCh38 |
| NC_000014.8:g.102028664C>T , CM000676.1:g.102028664C>T | GRCh37 |
| NC_000014.7:g.101098417C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510508.5:c.831C>T MANE Select | ENSP00000427336.3:p.Pro277= | |
| ENST00000700173.1:c.312C>T | ENSP00000514840.1:p.Pro104= | |
| ENST00000510508.4:c.831C>T | ENSP00000427336.3:p.Pro277= | |
| NM_001362.3:c.831C>T | NP_001353.4:p.Pro277= |