Linked Data
ClinVar Variation Id:
1541698
ClinVar RCV Id:
RCV002164719
dbSNP Id:
rs1555191590
MyVariant Identifiers:
chr11:g.118899027C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119028317C>G , CM000673.2:g.119028317C>G | GRCh38 |
| NC_000011.9:g.118899027C>G , CM000673.1:g.118899027C>G | GRCh37 |
| NC_000011.8:g.118404237C>G | NCBI36 |
| NG_013331.1:g.7590G>C , LRG_187:g.7590G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.487G>C | ||
| ENST00000697845.1:n.411G>C | ||
| ENST00000697846.1:n.487G>C | ||
| ENST00000697847.1:n.487G>C | ||
| ENST00000697848.1:n.487G>C | ||
| ENST00000697849.1:n.1526G>C | ||
| ENST00000697850.1:n.487G>C | ||
| ENST00000697851.1:n.1526G>C | ||
| ENST00000638186.1:n.561G>C | ||
| ENST00000638360.1:n.495G>C | ||
| ENST00000638925.1:n.494G>C | ||
| ENST00000650539.1:n.663G>C | ||
| ENST00000330775.9:c.258G>C | ENSP00000476242.2:p.Leu86= | |
| ENST00000357590.9:c.258G>C | ENSP00000476176.2:p.Leu86= | |
| ENST00000524428.5:n.258G>C | ||
| ENST00000525039.5:n.681G>C | ||
| ENST00000525102.5:n.1015G>C | ||
| ENST00000525372.5:n.258G>C | ||
| ENST00000525787.1:n.553G>C | ||
| ENST00000526275.5:n.718G>C | ||
| ENST00000526626.6:n.344-445G>C | ||
| ENST00000527992.5:n.485G>C | ||
| ENST00000529510.5:n.276G>C | ||
| ENST00000530407.5:n.407G>C | ||
| ENST00000532085.1:n.2547G>C | ||
| ENST00000532888.6:n.553G>C | ||
| ENST00000534384.1:n.478G>C | ||
| ENST00000538950.5:c.39G>C | ENSP00000475991.2:p.Leu13= | |
| ENST00000545985.5:c.258G>C | ENSP00000475241.2:p.Leu86= | |
| NM_001164277.1:c.258G>C , LRG_187t1:c.258G>C | NP_001157749.1:p.Leu86= | |
| NM_001164278.1:c.258G>C | NP_001157750.1:p.Leu86= | |
| NM_001164279.1:c.39G>C | NP_001157751.1:p.Leu13= | |
| NM_001164280.1:c.258G>C | NP_001157752.1:p.Leu86= | |
| NM_001467.5:c.258G>C | NP_001458.1:p.Leu86= | |
| NM_001164278.2:c.258G>C | NP_001157750.1:p.Leu86= | |
| NM_001164279.2:c.39G>C | NP_001157751.1:p.Leu13= | |
| NM_001164280.2:c.258G>C | NP_001157752.1:p.Leu86= | |
| NM_001467.6:c.258G>C | NP_001458.1:p.Leu86= | |
| NM_001164277.2:c.258G>C MANE Select | NP_001157749.1:p.Leu86= |