Linked Data
ClinVar Variation Id:
2045808
ClinVar RCV Id:
RCV002908913
dbSNP Id:
rs1445341934
gnomAD v2:
11-5246915-A-G
gnomAD v3:
11-5225685-A-G
gnomAD v4:
11-5225685-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225685A>G , CM000673.2:g.5225685A>G | GRCh38 |
| NC_000011.9:g.5246915A>G , CM000673.1:g.5246915A>G | GRCh37 |
| NC_000011.8:g.5203491A>G | NCBI36 |
| NG_000007.3:g.71931T>C | |
| NG_059281.1:g.6387T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.357T>C | ENSP00000494175.1:p.Phe119= | |
| ENST00000335295.4:c.357T>C MANE Select | ENSP00000333994.3:p.Phe119= | |
| ENST00000475226.1:n.289T>C | ||
| ENST00000633227.1:c.*173T>C | ENSP00000488004.1:n.*173T>C | |
| NM_000518.4:c.357T>C | NP_000509.1:p.Phe119= | |
| NM_000518.5:c.357T>C MANE Select | NP_000509.1:p.Phe119= |