Linked Data
dbSNP Id:
rs567462274
gnomAD v2:
8-86240509-T-C
gnomAD v3:
8-85328280-T-C
gnomAD v4:
8-85328280-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85328280T>C , CM000670.2:g.85328280T>C | GRCh38 |
| NC_000008.10:g.86240509T>C , CM000670.1:g.86240509T>C | GRCh37 |
| NC_000008.9:g.86427761T>C | NCBI36 |
| NG_016221.1:g.54834A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523022.6:c.*280A>G MANE Select | ENSP00000429798.1:n.*280A>G | |
| ENST00000431316.3:c.*280A>G | ENSP00000392338.1:n.*280A>G | |
| ENST00000523022.5:c.*280A>G | ENSP00000429798.1:n.*280A>G | |
| ENST00000523953.5:c.*280A>G | ENSP00000430656.1:n.*280A>G | |
| ENST00000542576.5:c.*280A>G | ENSP00000443517.1:n.*280A>G | |
| ENST00000626824.1:c.*280A>G | ENSP00000486171.1:n.*280A>G | |
| NM_001128829.3:c.*280A>G | NP_001122301.1:n.*280A>G | |
| NM_001128830.3:c.*280A>G | NP_001122302.1:n.*280A>G | |
| NM_001128831.3:c.*280A>G | NP_001122303.1:n.*280A>G | |
| NM_001164830.1:c.*280A>G | NP_001158302.1:n.*280A>G | |
| NM_001291967.1:c.*280A>G | NP_001278896.1:n.*280A>G | |
| NM_001291968.1:c.*280A>G | NP_001278897.1:n.*280A>G | |
| NM_001738.4:c.*280A>G | NP_001729.1:n.*280A>G | |
| XM_011517584.1:c.*280A>G | XP_011515886.1:n.*280A>G | |
| NM_001128829.4:c.*280A>G | NP_001122301.1:n.*280A>G | |
| NM_001128830.4:c.*280A>G | NP_001122302.1:n.*280A>G | |
| NM_001128831.4:c.*280A>G MANE Select | NP_001122303.1:n.*280A>G | |
| NM_001164830.2:c.*280A>G | NP_001158302.1:n.*280A>G | |
| NM_001291967.2:c.*280A>G | NP_001278896.1:n.*280A>G | |
| NM_001291968.2:c.*280A>G | NP_001278897.1:n.*280A>G | |
| NM_001738.5:c.*280A>G | NP_001729.1:n.*280A>G |