Linked Data
ClinVar Variation Id:
1113208
ClinVar RCV Id:
RCV001440519
dbSNP Id:
rs2069936304
MyVariant Identifiers:
chr8:g.19809300T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951789T>C , CM000670.2:g.19951789T>C | GRCh38 |
| NC_000008.10:g.19809300T>C , CM000670.1:g.19809300T>C | GRCh37 |
| NC_000008.9:g.19853580T>C | NCBI36 |
| NG_008855.1:g.17719T>C | |
| NG_008855.2:g.55073T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.270T>C MANE Select | ENSP00000497642.1:p.Ser90= | |
| ENST00000311322.8:c.270T>C | ENSP00000309757.6:p.Ser90= | |
| ENST00000520959.5:c.42T>C | ENSP00000428496.1:p.Ser14= | |
| ENST00000521994.1:n.527T>C | ||
| ENST00000522701.5:c.270T>C | ENSP00000428557.1:p.Ser90= | |
| ENST00000524029.5:c.270T>C | ENSP00000428237.1:p.Ser90= | |
| NM_000237.2:c.270T>C | NP_000228.1:p.Ser90= | |
| NM_000237.3:c.270T>C MANE Select | NP_000228.1:p.Ser90= |