Linked Data
dbSNP Id:
rs752842718
ExAC:
22:24176369 C / G
gnomAD v2:
22-24176369-C-G
gnomAD v4:
22-23834182-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23834182C>G , CM000684.2:g.23834182C>G | GRCh38 |
| NC_000022.10:g.24176369C>G , CM000684.1:g.24176369C>G | GRCh37 |
| NC_000022.9:g.22506369C>G | NCBI36 |
| NG_009303.1:g.52220C>G , LRG_520:g.52220C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.*2C>G | ENSP00000263121.8:n.*2C>G | |
| ENST00000344921.11:c.*2C>G | ENSP00000340883.6:n.*2C>G | |
| ENST00000407422.8:c.*2C>G | ENSP00000383984.3:n.*2C>G | |
| ENST00000644036.2:c.*2C>G MANE Select | ENSP00000494049.2:n.*2C>G | |
| ENST00000644462.1:c.1878C>G | ENSP00000494283.1:n.1878C>G | |
| ENST00000645799.1:n.2482C>G | ||
| ENST00000646723.1:n.3506C>G | ||
| ENST00000647057.1:c.*654C>G | ENSP00000494757.1:n.*654C>G | |
| ENST00000263121.11:c.*2C>G | ENSP00000263121.7:n.*2C>G | |
| ENST00000344921.10:c.*2C>G | ENSP00000340883.6:n.*2C>G | |
| ENST00000407082.3:c.*2C>G | ENSP00000385226.3:n.*2C>G | |
| ENST00000407422.7:c.*2C>G | ENSP00000383984.3:n.*2C>G | |
| NM_001007468.1:c.*2C>G | NP_001007469.1:n.*2C>G | |
| NM_003073.3:c.*2C>G , LRG_520t1:c.*2C>G | NP_003064.2:n.*2C>G | |
| XM_011530345.1:c.*2C>G | XP_011528647.1:n.*2C>G | |
| XM_011530346.1:c.*2C>G | XP_011528648.1:n.*2C>G | |
| NM_001007468.2:c.*2C>G | NP_001007469.1:n.*2C>G | |
| NM_001317946.1:c.*2C>G | NP_001304875.1:n.*2C>G | |
| NM_001362877.1:c.*2C>G | NP_001349806.1:n.*2C>G | |
| NM_003073.4:c.*2C>G | NP_003064.2:n.*2C>G | |
| NM_001007468.3:c.*2C>G | NP_001007469.1:n.*2C>G | |
| NM_001317946.2:c.*2C>G | NP_001304875.1:n.*2C>G | |
| NM_001362877.2:c.*2C>G | NP_001349806.1:n.*2C>G | |
| NM_003073.5:c.*2C>G MANE Select | NP_003064.2:n.*2C>G |