Linked Data
ClinVar Variation Id:
1580553
ClinVar RCV Id:
RCV002094854
dbSNP Id:
rs1010838306
MyVariant Identifiers:
chr11:g.118898439C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027729C>G , CM000673.2:g.119027729C>G | GRCh38 |
| NC_000011.9:g.118898439C>G , CM000673.1:g.118898439C>G | GRCh37 |
| NC_000011.8:g.118403649C>G | NCBI36 |
| NG_013331.1:g.8178G>C , LRG_187:g.8178G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.754G>C | ||
| ENST00000697845.1:n.678G>C | ||
| ENST00000697846.1:n.754G>C | ||
| ENST00000697847.1:n.754G>C | ||
| ENST00000697848.1:n.754G>C | ||
| ENST00000697849.1:n.1793G>C | ||
| ENST00000697850.1:n.754G>C | ||
| ENST00000697851.1:n.2114G>C | ||
| ENST00000638186.1:n.828G>C | ||
| ENST00000638360.1:n.660G>C | ||
| ENST00000638925.1:n.761G>C | ||
| ENST00000650539.1:n.930G>C | ||
| ENST00000330775.9:c.525G>C | ENSP00000476242.2:p.Leu175= | |
| ENST00000357590.9:c.525G>C | ENSP00000476176.2:p.Leu175= | |
| ENST00000524428.5:n.846G>C | ||
| ENST00000525039.5:n.948G>C | ||
| ENST00000525102.5:n.1282G>C | ||
| ENST00000525372.5:n.525G>C | ||
| ENST00000526275.5:n.1306G>C | ||
| ENST00000526626.6:n.487G>C | ||
| ENST00000527992.5:n.752G>C | ||
| ENST00000529510.5:n.399+465G>C | ||
| ENST00000530407.5:n.674G>C | ||
| ENST00000532085.1:n.3135G>C | ||
| ENST00000532888.6:n.820G>C | ||
| ENST00000538950.5:c.306G>C | ENSP00000475991.2:p.Leu102= | |
| ENST00000545985.5:c.525G>C | ENSP00000475241.2:p.Leu175= | |
| NM_001164277.1:c.525G>C , LRG_187t1:c.525G>C | NP_001157749.1:p.Leu175= | |
| NM_001164278.1:c.525G>C | NP_001157750.1:p.Leu175= | |
| NM_001164279.1:c.306G>C | NP_001157751.1:p.Leu102= | |
| NM_001164280.1:c.525G>C | NP_001157752.1:p.Leu175= | |
| NM_001467.5:c.525G>C | NP_001458.1:p.Leu175= | |
| NM_001164278.2:c.525G>C | NP_001157750.1:p.Leu175= | |
| NM_001164279.2:c.306G>C | NP_001157751.1:p.Leu102= | |
| NM_001164280.2:c.525G>C | NP_001157752.1:p.Leu175= | |
| NM_001467.6:c.525G>C | NP_001458.1:p.Leu175= | |
| NM_001164277.2:c.525G>C MANE Select | NP_001157749.1:p.Leu175= |