Linked Data
ClinVar Variation Id:
2786303
ClinVar RCV Id:
RCV003598307
dbSNP Id:
rs779648193
ExAC:
20:44519985 G / C
gnomAD v2:
20-44519985-G-C
gnomAD v4:
20-45891346-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45891346G>C , CM000682.2:g.45891346G>C | GRCh38 |
| NC_000020.10:g.44519985G>C , CM000682.1:g.44519985G>C | GRCh37 |
| NC_000020.9:g.43953392G>C | NCBI36 |
| NG_008291.1:g.5395G>C | |
| NG_033108.1:g.4942C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.384G>C | ||
| ENST00000606066.3:n.384G>C | ||
| ENST00000607187.3:n.384G>C | ||
| ENST00000607212.3:n.25G>C | ||
| ENST00000678622.2:n.384G>C | ||
| ENST00000678691.2:n.384G>C | ||
| ENST00000678988.2:n.1006G>C | ||
| ENST00000679053.2:n.384G>C | ||
| ENST00000679343.2:n.384G>C | ||
| ENST00000684198.1:n.384G>C | ||
| ENST00000372484.8:c.21G>C | ENSP00000361562.3:p.Ala7= | |
| ENST00000606066.2:n.32G>C | ||
| ENST00000606394.6:c.21G>C | ENSP00000475827.1:p.Ala7= | |
| ENST00000607212.2:n.25G>C | ||
| ENST00000646241.3:c.-34G>C MANE Select | ENSP00000493613.2:n.-34G>C | |
| ENST00000676526.1:c.21G>C | ENSP00000504209.1:p.Ala7= | |
| ENST00000677394.1:c.21G>C | ENSP00000504790.1:p.Ala7= | |
| ENST00000677525.1:c.-55G>C | ENSP00000504197.1:n.-55G>C | |
| ENST00000678025.1:c.-34G>C | ENSP00000503463.1:n.-34G>C | |
| ENST00000678078.1:c.21G>C | ENSP00000502993.1:p.Ala7= | |
| ENST00000678512.1:n.4G>C | ||
| ENST00000678622.1:n.12G>C | ||
| ENST00000678939.1:c.-34G>C | ENSP00000503404.1:n.-34G>C | |
| ENST00000678988.1:n.1006G>C | ||
| ENST00000679053.1:n.12G>C | ||
| ENST00000679343.1:n.5G>C | ||
| ENST00000191018.9:c.-80G>C | ENSP00000191018.5:n.-80G>C | |
| ENST00000354880.9:c.21G>C | ENSP00000346952.4:p.Ala7= | |
| ENST00000372484.7:c.21G>C | ENSP00000361562.3:p.Ala7= | |
| ENST00000606066.1:n.12G>C | ||
| ENST00000606394.5:c.21G>C | ENSP00000475827.1:p.Ala7= | |
| ENST00000606788.5:c.21G>C | ENSP00000476235.1:p.Ala7= | |
| ENST00000607841.5:n.12G>C | ||
| NM_000308.2:c.21G>C | NP_000299.2:p.Ala7= | |
| NM_000308.3:c.21G>C | NP_000299.2:p.Ala7= | |
| NM_001127695.1:c.-80G>C | NP_001121167.1:n.-80G>C | |
| NM_001127695.2:c.-80G>C | NP_001121167.1:n.-80G>C | |
| NM_001167594.1:c.21G>C | NP_001161066.1:p.Ala7= | |
| NM_001167594.2:c.21G>C | NP_001161066.1:p.Ala7= | |
| NR_133656.1:n.1203G>C | ||
| NM_000308.4:c.-34G>C MANE Select | NP_000299.3:n.-34G>C | |
| NM_001127695.3:c.-80G>C | NP_001121167.1:n.-80G>C | |
| NM_001167594.3:c.-34G>C | NP_001161066.2:n.-34G>C | |
| NR_133656.2:n.12G>C |