Linked Data
ClinVar Variation Id:
719467
ClinVar RCV Id:
RCV000892617
dbSNP Id:
rs12242912
ExAC:
10:6154308 C / T
gnomAD v2:
10-6154308-C-T
gnomAD v3:
10-6112345-C-T
gnomAD v4:
10-6112345-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6112345C>T , CM000672.2:g.6112345C>T | GRCh38 |
| NC_000010.10:g.6154308C>T , CM000672.1:g.6154308C>T | GRCh37 |
| NC_000010.9:g.6194314C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379888.9:c.840C>T MANE Select | ENSP00000369218.4:p.Gly280= | |
| ENST00000379888.8:c.840C>T | ENSP00000369218.4:p.Gly280= | |
| ENST00000446108.5:c.840C>T | ENSP00000388638.1:p.Gly280= | |
| ENST00000447032.1:c.560C>T | ||
| ENST00000481147.1:n.533C>T | ||
| NM_001145547.1:c.840C>T | NP_001139019.1:p.Gly280= | |
| NM_032905.4:c.840C>T | NP_116294.1:p.Gly280= | |
| XR_001747246.2:n.990C>T | ||
| NM_032905.5:c.840C>T MANE Select | NP_116294.1:p.Gly280= | |
| NM_001145547.2:c.840C>T | NP_001139019.1:p.Gly280= |