Linked Data
ClinVar Variation Id:
459622
ClinVar RCV Id:
RCV001467546
dbSNP Id:
rs371347098
ExAC:
11:118899111 T / C
gnomAD v2:
11-118899111-T-C
gnomAD v3:
11-119028401-T-C
gnomAD v4:
11-119028401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119028401T>C , CM000673.2:g.119028401T>C | GRCh38 |
| NC_000011.9:g.118899111T>C , CM000673.1:g.118899111T>C | GRCh37 |
| NC_000011.8:g.118404321T>C | NCBI36 |
| NG_013331.1:g.7506A>G , LRG_187:g.7506A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.403A>G | ||
| ENST00000697845.1:n.327A>G | ||
| ENST00000697846.1:n.403A>G | ||
| ENST00000697847.1:n.403A>G | ||
| ENST00000697848.1:n.403A>G | ||
| ENST00000697849.1:n.1442A>G | ||
| ENST00000697850.1:n.403A>G | ||
| ENST00000697851.1:n.1442A>G | ||
| ENST00000638186.1:n.477A>G | ||
| ENST00000638360.1:n.411A>G | ||
| ENST00000638925.1:n.410A>G | ||
| ENST00000650539.1:n.579A>G | ||
| ENST00000330775.9:c.174A>G | ENSP00000476242.2:p.Ala58= | |
| ENST00000357590.9:c.174A>G | ENSP00000476176.2:p.Ala58= | |
| ENST00000524428.5:n.174A>G | ||
| ENST00000525039.5:n.597A>G | ||
| ENST00000525102.5:n.931A>G | ||
| ENST00000525372.5:n.174A>G | ||
| ENST00000525787.1:n.469A>G | ||
| ENST00000526275.5:n.634A>G | ||
| ENST00000526626.6:n.344-529A>G | ||
| ENST00000527992.5:n.401A>G | ||
| ENST00000529510.5:n.192A>G | ||
| ENST00000530407.5:n.323A>G | ||
| ENST00000532085.1:n.2463A>G | ||
| ENST00000532888.6:n.469A>G | ||
| ENST00000534384.1:n.394A>G | ||
| ENST00000538950.5:c.-46A>G | ENSP00000475991.2:n.-46A>G | |
| ENST00000545985.5:c.174A>G | ENSP00000475241.2:p.Ala58= | |
| NM_001164277.1:c.174A>G , LRG_187t1:c.174A>G | NP_001157749.1:p.Ala58= | |
| NM_001164278.1:c.174A>G | NP_001157750.1:p.Ala58= | |
| NM_001164279.1:c.-46A>G | NP_001157751.1:n.-46A>G | |
| NM_001164280.1:c.174A>G | NP_001157752.1:p.Ala58= | |
| NM_001467.5:c.174A>G | NP_001458.1:p.Ala58= | |
| NM_001164278.2:c.174A>G | NP_001157750.1:p.Ala58= | |
| NM_001164279.2:c.-46A>G | NP_001157751.1:n.-46A>G | |
| NM_001164280.2:c.174A>G | NP_001157752.1:p.Ala58= | |
| NM_001467.6:c.174A>G | NP_001458.1:p.Ala58= | |
| NM_001164277.2:c.174A>G MANE Select | NP_001157749.1:p.Ala58= |