Linked Data
ClinVar Variation Id:
2850473
ClinVar RCV Id:
RCV003688308
dbSNP Id:
rs1592814524
gnomAD v4:
12-49950854-C-T
MyVariant Identifiers:
chr12:g.50344637C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49950854C>T , CM000674.2:g.49950854C>T | GRCh38 |
| NC_000012.11:g.50344637C>T , CM000674.1:g.50344637C>T | GRCh37 |
| NC_000012.10:g.48630904C>T | NCBI36 |
| NG_008913.1:g.5114C>T , LRG_717:g.5114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.24C>T MANE Select | ENSP00000199280.3:p.Ala8= | |
| ENST00000199280.3:c.24C>T | ENSP00000199280.3:p.Ala8= | |
| ENST00000550862.1:c.24C>T | ENSP00000450022.1:p.Ala8= | |
| ENST00000551526.5:c.24C>T | ENSP00000447148.1:p.Ala8= | |
| NM_000486.5:c.24C>T , LRG_717t1:c.24C>T | NP_000477.1:p.Ala8= | |
| NM_000486.6:c.24C>T MANE Select | NP_000477.1:p.Ala8= |