Linked Data
ClinVar Variation Id:
2181223
ClinVar RCV Id:
RCV002606034
dbSNP Id:
rs1202636694
gnomAD v4:
11-119026677-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026677T>C , CM000673.2:g.119026677T>C | GRCh38 |
| NC_000011.9:g.118897387T>C , CM000673.1:g.118897387T>C | GRCh37 |
| NC_000011.8:g.118402597T>C | NCBI36 |
| NG_013331.1:g.9229A>G , LRG_187:g.9229A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1014+260A>G | ||
| ENST00000697845.1:n.1198A>G | ||
| ENST00000697846.1:n.1014+260A>G | ||
| ENST00000697847.1:n.1026A>G | ||
| ENST00000697848.1:n.1026A>G | ||
| ENST00000697849.1:n.2313A>G | ||
| ENST00000697850.1:n.1026A>G | ||
| ENST00000697851.1:n.2634A>G | ||
| ENST00000638186.1:n.1100A>G | ||
| ENST00000638360.1:n.932A>G | ||
| ENST00000638925.1:n.1033A>G | ||
| ENST00000650539.1:n.1202A>G | ||
| ENST00000330775.9:c.796A>G | ENSP00000476242.2:p.Met266Val | |
| ENST00000357590.9:c.796A>G | ENSP00000476176.2:p.Met266Val | |
| ENST00000524428.5:n.1106+260A>G | ||
| ENST00000525039.5:n.1220A>G | ||
| ENST00000525102.5:n.1554A>G | ||
| ENST00000525372.5:n.797A>G | ||
| ENST00000526275.5:n.1578A>G | ||
| ENST00000527992.5:n.1024A>G | ||
| ENST00000529510.5:n.558+260A>G | ||
| ENST00000530407.5:n.946A>G | ||
| ENST00000532085.1:n.3655A>G | ||
| ENST00000532888.6:n.1340A>G | ||
| ENST00000538950.5:c.577A>G | ENSP00000475991.2:p.Met193Val | |
| ENST00000545985.5:c.796A>G | ENSP00000475241.2:p.Met266Val | |
| NM_001164277.1:c.796A>G , LRG_187t1:c.796A>G | NP_001157749.1:p.Met266Val | |
| NM_001164278.1:c.796A>G | NP_001157750.1:p.Met266Val | |
| NM_001164279.1:c.577A>G | NP_001157751.1:p.Met193Val | |
| NM_001164280.1:c.796A>G | NP_001157752.1:p.Met266Val | |
| NM_001467.5:c.796A>G | NP_001458.1:p.Met266Val | |
| NM_001164278.2:c.796A>G | NP_001157750.1:p.Met266Val | |
| NM_001164279.2:c.577A>G | NP_001157751.1:p.Met193Val | |
| NM_001164280.2:c.796A>G | NP_001157752.1:p.Met266Val | |
| NM_001467.6:c.796A>G | NP_001458.1:p.Met266Val | |
| NM_001164277.2:c.796A>G MANE Select | NP_001157749.1:p.Met266Val |