Linked Data
dbSNP Id:
rs1311052647
gnomAD v2:
6-32008978-C-T
gnomAD v3:
6-32041201-C-T
gnomAD v4:
6-32041201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041201C>T , CM000668.2:g.32041201C>T | GRCh38 |
| NC_000006.11:g.32008978C>T , CM000668.1:g.32008978C>T | GRCh37 |
| NC_000006.10:g.32116957C>T | NCBI36 |
| NG_007941.2:g.7894C>T | |
| NG_008337.2:g.73174G>A | |
| NG_007941.3:g.7897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.*67C>T (CYP21A2) MANE Select | ENSP00000496625.1:n.*67C>T | |
| ENST00000644971.2:c.*148G>A (TNXB) MANE Select | ENSP00000496448.1:n.*148G>A | |
| ENST00000647633.1:c.*148G>A (TNXB) | ENSP00000497649.1:n.*148G>A | |
| ENST00000375244.7:c.*148G>A (TNXB) | ENSP00000364393.3:n.*148G>A | |
| ENST00000418967.6:c.*67C>T (CYP21A2) | ENSP00000408860.2:n.*67C>T | |
| ENST00000435122.3:c.*67C>T (CYP21A2) | ENSP00000415043.2:n.*67C>T | |
| ENST00000451343.4:c.*148G>A (TNXB) | ENSP00000407685.1:n.*148G>A | |
| ENST00000479074.5:n.1696C>T (CYP21A2) | ||
| ENST00000479730.5:n.1671C>T (CYP21A2) | ||
| ENST00000486063.5:n.1534C>T (CYP21A2) | ||
| ENST00000490077.5:n.2710G>A (TNXB) | ||
| ENST00000611016.2:c.6037G>A (TNXB) | ENSP00000483409.1:n.6037G>A | |
| NM_000500.7:c.*67C>T (CYP21A2) | NP_000491.4:n.*67C>T | |
| NM_001128590.3:c.*67C>T (CYP21A2) | NP_001122062.3:n.*67C>T | |
| NM_019105.6:c.*148G>A (TNXB) | NP_061978.6:n.*148G>A | |
| NM_032470.3:c.*148G>A (TNXB) | NP_115859.2:n.*148G>A | |
| XM_011514314.1:c.*67C>T (CYP21A2) | XP_011512616.1:n.*67C>T | |
| NM_000500.9:c.*67C>T (CYP21A2) MANE Select | NP_000491.4:n.*67C>T | |
| NM_001365276.1:c.*148G>A (TNXB) | NP_001352205.1:n.*148G>A | |
| NM_019105.7:c.*148G>A (TNXB) | NP_061978.6:n.*148G>A | |
| NM_001365276.2:c.*148G>A (TNXB) MANE Select | NP_001352205.1:n.*148G>A | |
| NM_001368143.1:c.*67C>T (CYP21A2) | NP_001355072.1:n.*67C>T | |
| NM_001368144.1:c.*67C>T (CYP21A2) | NP_001355073.1:n.*67C>T | |
| NM_019105.8:c.*148G>A (TNXB) | NP_061978.6:n.*148G>A | |
| NM_001128590.4:c.*67C>T (CYP21A2) | NP_001122062.3:n.*67C>T | |
| NM_001368143.2:c.*67C>T (CYP21A2) | NP_001355072.1:n.*67C>T | |
| NM_001368144.2:c.*67C>T (CYP21A2) | NP_001355073.1:n.*67C>T | |
| NM_032470.4:c.*148G>A (TNXB) | NP_115859.2:n.*148G>A |