Linked Data
ClinVar Variation Id:
1644313
ClinVar RCV Id:
RCV002140467
dbSNP Id:
rs2128839599
MyVariant Identifiers:
chr8:g.19818514C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961003C>T , CM000670.2:g.19961003C>T | GRCh38 |
| NC_000008.10:g.19818514C>T , CM000670.1:g.19818514C>T | GRCh37 |
| NC_000008.9:g.19862794C>T | NCBI36 |
| NG_008855.1:g.26933C>T | |
| NG_008855.2:g.64287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1242C>T MANE Select | ENSP00000497642.1:p.Tyr414= | |
| ENST00000650478.1:c.182C>T | ENSP00000497560.1:n.182C>T | |
| ENST00000311322.8:c.1242C>T | ENSP00000309757.6:p.Tyr414= | |
| NM_000237.2:c.1242C>T | NP_000228.1:p.Tyr414= | |
| NM_000237.3:c.1242C>T MANE Select | NP_000228.1:p.Tyr414= |