Linked Data
ClinVar Variation Id:
2992839
ClinVar RCV Id:
RCV003857950
gnomAD v4:
11-119027076-G-A
MyVariant Identifiers:
chr11:g.118897786G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027076G>A , CM000673.2:g.119027076G>A | GRCh38 |
| NC_000011.9:g.118897786G>A , CM000673.1:g.118897786G>A | GRCh37 |
| NC_000011.8:g.118402996G>A | NCBI36 |
| NG_013331.1:g.8830C>T , LRG_187:g.8830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.875C>T | ||
| ENST00000697845.1:n.799C>T | ||
| ENST00000697846.1:n.875C>T | ||
| ENST00000697847.1:n.875C>T | ||
| ENST00000697848.1:n.875C>T | ||
| ENST00000697849.1:n.1914C>T | ||
| ENST00000697850.1:n.875C>T | ||
| ENST00000697851.1:n.2235C>T | ||
| ENST00000638186.1:n.949C>T | ||
| ENST00000638360.1:n.781C>T | ||
| ENST00000638925.1:n.882C>T | ||
| ENST00000650539.1:n.1051C>T | ||
| ENST00000330775.9:c.645C>T | ENSP00000476242.2:p.Ser215= | |
| ENST00000357590.9:c.645C>T | ENSP00000476176.2:p.Ser215= | |
| ENST00000524428.5:n.967C>T | ||
| ENST00000525039.5:n.1069C>T | ||
| ENST00000525102.5:n.1403C>T | ||
| ENST00000525372.5:n.646C>T | ||
| ENST00000526275.5:n.1427C>T | ||
| ENST00000526626.6:n.608C>T | ||
| ENST00000527992.5:n.873C>T | ||
| ENST00000529510.5:n.419C>T | ||
| ENST00000530407.5:n.795C>T | ||
| ENST00000532085.1:n.3256C>T | ||
| ENST00000532888.6:n.941C>T | ||
| ENST00000538950.5:c.426C>T | ENSP00000475991.2:p.Ser142= | |
| ENST00000545985.5:c.645C>T | ENSP00000475241.2:p.Ser215= | |
| NM_001164277.1:c.645C>T , LRG_187t1:c.645C>T | NP_001157749.1:p.Ser215= | |
| NM_001164278.1:c.645C>T | NP_001157750.1:p.Ser215= | |
| NM_001164279.1:c.426C>T | NP_001157751.1:p.Ser142= | |
| NM_001164280.1:c.645C>T | NP_001157752.1:p.Ser215= | |
| NM_001467.5:c.645C>T | NP_001458.1:p.Ser215= | |
| NM_001164278.2:c.645C>T | NP_001157750.1:p.Ser215= | |
| NM_001164279.2:c.426C>T | NP_001157751.1:p.Ser142= | |
| NM_001164280.2:c.645C>T | NP_001157752.1:p.Ser215= | |
| NM_001467.6:c.645C>T | NP_001458.1:p.Ser215= | |
| NM_001164277.2:c.645C>T MANE Select | NP_001157749.1:p.Ser215= |