Linked Data
ClinVar Variation Id:
1608998
ClinVar RCV Id:
RCV002155136
dbSNP Id:
rs2133588043
MyVariant Identifiers:
chr11:g.5247864A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226634A>G , CM000673.2:g.5226634A>G | GRCh38 |
| NC_000011.9:g.5247864A>G , CM000673.1:g.5247864A>G | GRCh37 |
| NC_000011.8:g.5204440A>G | NCBI36 |
| NG_000007.3:g.70982T>C | |
| NG_059281.1:g.5438T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.258T>C | ENSP00000494175.1:p.Phe86= | |
| ENST00000335295.4:c.258T>C MANE Select | ENSP00000333994.3:p.Phe86= | |
| ENST00000380315.2:c.258T>C | ENSP00000369671.2:p.Phe86= | |
| ENST00000475226.1:n.190T>C | ||
| ENST00000485743.1:n.309T>C | ||
| ENST00000633227.1:c.*74T>C | ENSP00000488004.1:n.*74T>C | |
| NM_000518.4:c.258T>C | NP_000509.1:p.Phe86= | |
| NM_000518.5:c.258T>C MANE Select | NP_000509.1:p.Phe86= |