Linked Data
ClinVar Variation Id:
1445899
ClinVar RCV Id:
RCV001985296
dbSNP Id:
rs782005026
gnomAD v4:
11-119027068-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027068T>C , CM000673.2:g.119027068T>C | GRCh38 |
| NC_000011.9:g.118897778T>C , CM000673.1:g.118897778T>C | GRCh37 |
| NC_000011.8:g.118402988T>C | NCBI36 |
| NG_013331.1:g.8838A>G , LRG_187:g.8838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.883A>G | ||
| ENST00000697845.1:n.807A>G | ||
| ENST00000697846.1:n.883A>G | ||
| ENST00000697847.1:n.883A>G | ||
| ENST00000697848.1:n.883A>G | ||
| ENST00000697849.1:n.1922A>G | ||
| ENST00000697850.1:n.883A>G | ||
| ENST00000697851.1:n.2243A>G | ||
| ENST00000638186.1:n.957A>G | ||
| ENST00000638360.1:n.789A>G | ||
| ENST00000638925.1:n.890A>G | ||
| ENST00000650539.1:n.1059A>G | ||
| ENST00000330775.9:c.653A>G | ENSP00000476242.2:p.Gln218Arg | |
| ENST00000357590.9:c.653A>G | ENSP00000476176.2:p.Gln218Arg | |
| ENST00000524428.5:n.975A>G | ||
| ENST00000525039.5:n.1077A>G | ||
| ENST00000525102.5:n.1411A>G | ||
| ENST00000525372.5:n.654A>G | ||
| ENST00000526275.5:n.1435A>G | ||
| ENST00000526626.6:n.616A>G | ||
| ENST00000527992.5:n.881A>G | ||
| ENST00000529510.5:n.427A>G | ||
| ENST00000530407.5:n.803A>G | ||
| ENST00000532085.1:n.3264A>G | ||
| ENST00000532888.6:n.949A>G | ||
| ENST00000538950.5:c.434A>G | ENSP00000475991.2:p.Gln145Arg | |
| ENST00000545985.5:c.653A>G | ENSP00000475241.2:p.Gln218Arg | |
| NM_001164277.1:c.653A>G , LRG_187t1:c.653A>G | NP_001157749.1:p.Gln218Arg | |
| NM_001164278.1:c.653A>G | NP_001157750.1:p.Gln218Arg | |
| NM_001164279.1:c.434A>G | NP_001157751.1:p.Gln145Arg | |
| NM_001164280.1:c.653A>G | NP_001157752.1:p.Gln218Arg | |
| NM_001467.5:c.653A>G | NP_001458.1:p.Gln218Arg | |
| NM_001164278.2:c.653A>G | NP_001157750.1:p.Gln218Arg | |
| NM_001164279.2:c.434A>G | NP_001157751.1:p.Gln145Arg | |
| NM_001164280.2:c.653A>G | NP_001157752.1:p.Gln218Arg | |
| NM_001467.6:c.653A>G | NP_001458.1:p.Gln218Arg | |
| NM_001164277.2:c.653A>G MANE Select | NP_001157749.1:p.Gln218Arg |