Linked Data
ClinVar Variation Id:
1627954
ClinVar RCV Id:
RCV002114322
dbSNP Id:
rs2128837721
MyVariant Identifiers:
chr8:g.19809444T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951933T>C , CM000670.2:g.19951933T>C | GRCh38 |
| NC_000008.10:g.19809444T>C , CM000670.1:g.19809444T>C | GRCh37 |
| NC_000008.9:g.19853724T>C | NCBI36 |
| NG_008855.1:g.17863T>C | |
| NG_008855.2:g.55217T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.414T>C MANE Select | ENSP00000497642.1:p.Phe138= | |
| ENST00000311322.8:c.414T>C | ENSP00000309757.6:p.Phe138= | |
| ENST00000520959.5:c.186T>C | ENSP00000428496.1:p.Phe62= | |
| NM_000237.2:c.414T>C | NP_000228.1:p.Phe138= | |
| NM_000237.3:c.414T>C MANE Select | NP_000228.1:p.Phe138= |