Linked Data
ClinVar Variation Id:
2188401
ClinVar RCV Id:
RCV002620199
dbSNP Id:
rs891669766
gnomAD v2:
6-64940712-T-C
gnomAD v4:
6-64230819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64230819T>C , CM000668.2:g.64230819T>C | GRCh38 |
| NC_000006.11:g.64940712T>C , CM000668.1:g.64940712T>C | GRCh37 |
| NC_000006.10:g.64998671T>C | NCBI36 |
| NG_023443.1:g.1481407A>G | |
| NG_023443.2:g.1481407A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.6197A>G MANE Select | ENSP00000424243.1:p.Gln2066Arg | |
| ENST00000370616.6:c.6197A>G | ENSP00000359650.2:p.Gln2066Arg | |
| ENST00000370618.7:c.6197A>G | ENSP00000359652.4:p.Gln2066Arg | |
| ENST00000370621.7:c.6197A>G | ENSP00000359655.3:p.Gln2066Arg | |
| ENST00000503581.5:c.6197A>G | ENSP00000424243.1:p.Gln2066Arg | |
| NM_001142800.1:c.6197A>G | NP_001136272.1:p.Gln2066Arg | |
| NM_001292009.1:c.6197A>G | NP_001278938.1:p.Gln2066Arg | |
| NM_001142800.2:c.6197A>G MANE Select | NP_001136272.1:p.Gln2066Arg | |
| NM_001292009.2:c.6197A>G | NP_001278938.1:p.Gln2066Arg |