Linked Data
ClinVar Variation Id:
1563797
ClinVar RCV Id:
RCV002209499
dbSNP Id:
rs2134640047
gnomAD v4:
11-119028308-C-T
MyVariant Identifiers:
chr11:g.118899018C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119028308C>T , CM000673.2:g.119028308C>T | GRCh38 |
| NC_000011.9:g.118899018C>T , CM000673.1:g.118899018C>T | GRCh37 |
| NC_000011.8:g.118404228C>T | NCBI36 |
| NG_013331.1:g.7599G>A , LRG_187:g.7599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.496G>A | ||
| ENST00000697845.1:n.420G>A | ||
| ENST00000697846.1:n.496G>A | ||
| ENST00000697847.1:n.496G>A | ||
| ENST00000697848.1:n.496G>A | ||
| ENST00000697849.1:n.1535G>A | ||
| ENST00000697850.1:n.496G>A | ||
| ENST00000697851.1:n.1535G>A | ||
| ENST00000638186.1:n.570G>A | ||
| ENST00000638360.1:n.504G>A | ||
| ENST00000638925.1:n.503G>A | ||
| ENST00000650539.1:n.672G>A | ||
| ENST00000330775.9:c.267G>A | ENSP00000476242.2:p.Leu89= | |
| ENST00000357590.9:c.267G>A | ENSP00000476176.2:p.Leu89= | |
| ENST00000524428.5:n.267G>A | ||
| ENST00000525039.5:n.690G>A | ||
| ENST00000525102.5:n.1024G>A | ||
| ENST00000525372.5:n.267G>A | ||
| ENST00000525787.1:n.562G>A | ||
| ENST00000526275.5:n.727G>A | ||
| ENST00000526626.6:n.344-436G>A | ||
| ENST00000527992.5:n.494G>A | ||
| ENST00000529510.5:n.285G>A | ||
| ENST00000530407.5:n.416G>A | ||
| ENST00000532085.1:n.2556G>A | ||
| ENST00000532888.6:n.562G>A | ||
| ENST00000534384.1:n.487G>A | ||
| ENST00000538950.5:c.48G>A | ENSP00000475991.2:p.Leu16= | |
| ENST00000545985.5:c.267G>A | ENSP00000475241.2:p.Leu89= | |
| NM_001164277.1:c.267G>A , LRG_187t1:c.267G>A | NP_001157749.1:p.Leu89= | |
| NM_001164278.1:c.267G>A | NP_001157750.1:p.Leu89= | |
| NM_001164279.1:c.48G>A | NP_001157751.1:p.Leu16= | |
| NM_001164280.1:c.267G>A | NP_001157752.1:p.Leu89= | |
| NM_001467.5:c.267G>A | NP_001458.1:p.Leu89= | |
| NM_001164278.2:c.267G>A | NP_001157750.1:p.Leu89= | |
| NM_001164279.2:c.48G>A | NP_001157751.1:p.Leu16= | |
| NM_001164280.2:c.267G>A | NP_001157752.1:p.Leu89= | |
| NM_001467.6:c.267G>A | NP_001458.1:p.Leu89= | |
| NM_001164277.2:c.267G>A MANE Select | NP_001157749.1:p.Leu89= |