Linked Data
ClinVar Variation Id:
189147
ClinVar RCV Id:
RCV000169570
dbSNP Id:
rs551439289
ExAC:
11:118897779 G / A
gnomAD v2:
11-118897779-G-A
gnomAD v3:
11-119027069-G-A
gnomAD v4:
11-119027069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027069G>A , CM000673.2:g.119027069G>A | GRCh38 |
| NC_000011.9:g.118897779G>A , CM000673.1:g.118897779G>A | GRCh37 |
| NC_000011.8:g.118402989G>A | NCBI36 |
| NG_013331.1:g.8837C>T , LRG_187:g.8837C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.882C>T | ||
| ENST00000697845.1:n.806C>T | ||
| ENST00000697846.1:n.882C>T | ||
| ENST00000697847.1:n.882C>T | ||
| ENST00000697848.1:n.882C>T | ||
| ENST00000697849.1:n.1921C>T | ||
| ENST00000697850.1:n.882C>T | ||
| ENST00000697851.1:n.2242C>T | ||
| ENST00000638186.1:n.956C>T | ||
| ENST00000638360.1:n.788C>T | ||
| ENST00000638925.1:n.889C>T | ||
| ENST00000650539.1:n.1058C>T | ||
| ENST00000330775.9:c.652C>T | ENSP00000476242.2:p.Gln218Ter | |
| ENST00000357590.9:c.652C>T | ENSP00000476176.2:p.Gln218Ter | |
| ENST00000524428.5:n.974C>T | ||
| ENST00000525039.5:n.1076C>T | ||
| ENST00000525102.5:n.1410C>T | ||
| ENST00000525372.5:n.653C>T | ||
| ENST00000526275.5:n.1434C>T | ||
| ENST00000526626.6:n.615C>T | ||
| ENST00000527992.5:n.880C>T | ||
| ENST00000529510.5:n.426C>T | ||
| ENST00000530407.5:n.802C>T | ||
| ENST00000532085.1:n.3263C>T | ||
| ENST00000532888.6:n.948C>T | ||
| ENST00000538950.5:c.433C>T | ENSP00000475991.2:p.Gln145Ter | |
| ENST00000545985.5:c.652C>T | ENSP00000475241.2:p.Gln218Ter | |
| NM_001164277.1:c.652C>T , LRG_187t1:c.652C>T | NP_001157749.1:p.Gln218Ter | |
| NM_001164278.1:c.652C>T | NP_001157750.1:p.Gln218Ter | |
| NM_001164279.1:c.433C>T | NP_001157751.1:p.Gln145Ter | |
| NM_001164280.1:c.652C>T | NP_001157752.1:p.Gln218Ter | |
| NM_001467.5:c.652C>T | NP_001458.1:p.Gln218Ter | |
| NM_001164278.2:c.652C>T | NP_001157750.1:p.Gln218Ter | |
| NM_001164279.2:c.433C>T | NP_001157751.1:p.Gln145Ter | |
| NM_001164280.2:c.652C>T | NP_001157752.1:p.Gln218Ter | |
| NM_001467.6:c.652C>T | NP_001458.1:p.Gln218Ter | |
| NM_001164277.2:c.652C>T MANE Select | NP_001157749.1:p.Gln218Ter |