Linked Data
ClinVar Variation Id:
1145561
ClinVar RCV Id:
RCV001484465
dbSNP Id:
rs2128837709
MyVariant Identifiers:
chr8:g.19809417A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951906A>G , CM000670.2:g.19951906A>G | GRCh38 |
| NC_000008.10:g.19809417A>G , CM000670.1:g.19809417A>G | GRCh37 |
| NC_000008.9:g.19853697A>G | NCBI36 |
| NG_008855.1:g.17836A>G | |
| NG_008855.2:g.55190A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.387A>G MANE Select | ENSP00000497642.1:p.Lys129= | |
| ENST00000311322.8:c.387A>G | ENSP00000309757.6:p.Lys129= | |
| ENST00000520959.5:c.159A>G | ENSP00000428496.1:p.Lys53= | |
| ENST00000524029.5:c.387A>G | ENSP00000428237.1:p.Lys129= | |
| NM_000237.2:c.387A>G | NP_000228.1:p.Lys129= | |
| NM_000237.3:c.387A>G MANE Select | NP_000228.1:p.Lys129= |