Linked Data
dbSNP Id:
rs192889094
gnomAD v2:
20-54968049-A-T
gnomAD v3:
20-56392993-A-T
gnomAD v4:
20-56392993-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56392993A>T , CM000682.2:g.56392993A>T | GRCh38 |
| NC_000020.10:g.54968049A>T , CM000682.1:g.54968049A>T | GRCh37 |
| NC_000020.9:g.54401456A>T | NCBI36 |
| NG_012133.1:g.4303T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217109.9:c.-33+280A>T MANE Select | ENSP00000217109.4:n.-33+280A>T | |
| ENST00000217109.8:c.-33+280A>T | ENSP00000217109.4:n.-33+280A>T | |
| ENST00000415828.5:c.-33+455A>T | ENSP00000387968.1:n.-33+455A>T | |
| ENST00000428552.1:c.-1+455A>T | ENSP00000405171.1:n.-1+455A>T | |
| ENST00000452950.1:c.-33+178A>T | ENSP00000409035.1:n.-33+178A>T | |
| ENST00000490539.1:c.-33+280A>T | ENSP00000479273.1:n.-33+280A>T | |
| ENST00000493039.5:c.-33+178A>T | ENSP00000477958.1:n.-33+178A>T | |
| ENST00000498689.5:n.168+455A>T | ||
| ENST00000613138.1:n.192+280A>T | ||
| NM_001033521.1:c.-33+455A>T | NP_001028693.1:n.-33+455A>T | |
| NM_001033522.1:c.-33+178A>T | NP_001028694.1:n.-33+178A>T | |
| NM_001324.2:c.-33+280A>T | NP_001315.1:n.-33+280A>T | |
| XM_011528600.1:c.-33+254A>T | XP_011526902.1:n.-33+254A>T | |
| NM_001033522.2:c.-33+178A>T | NP_001028694.1:n.-33+178A>T | |
| NM_001324.3:c.-33+280A>T MANE Select | NP_001315.1:n.-33+280A>T | |
| NM_001033521.2:c.-33+455A>T | NP_001028693.1:n.-33+455A>T |