Linked Data
ClinVar Variation Id:
769981
ClinVar RCV Id:
RCV000949075
dbSNP Id:
rs35679538
ExAC:
19:49548359 C / T
gnomAD v2:
19-49548359-C-T
gnomAD v3:
19-49045102-C-T
gnomAD v4:
19-49045102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49045102C>T , CM000681.2:g.49045102C>T | GRCh38 |
| NC_000019.9:g.49548359C>T , CM000681.1:g.49548359C>T | GRCh37 |
| NC_000019.8:g.54240171C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301408.7:c.306C>T MANE Select | ENSP00000301408.5:p.Tyr102= | |
| ENST00000301408.6:c.306C>T | ENSP00000301408.5:p.Tyr102= | |
| NM_033043.1:c.306C>T | NP_149032.1:p.Tyr102= | |
| NM_033043.2:c.306C>T MANE Select | NP_149032.1:p.Tyr102= |