Linked Data
dbSNP Id:
rs10483774
gnomAD v2:
14-64763599-G-A
gnomAD v3:
14-64296881-G-A
gnomAD v4:
14-64296881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64296881G>A , CM000676.2:g.64296881G>A | GRCh38 |
| NC_000014.8:g.64763599G>A , CM000676.1:g.64763599G>A | GRCh37 |
| NC_000014.7:g.63833352G>A | NCBI36 |
| NG_011535.1:g.46670C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358599.9:c.-90-13806C>T | ENSP00000351412.5:n.-90-13806C>T | |
| ENST00000554572.5:c.-91+652C>T | ENSP00000450699.1:n.-91+652C>T | |
| NM_001291712.1:c.-91+652C>T | NP_001278641.1:n.-91+652C>T | |
| NM_001291723.1:c.-90-13806C>T | NP_001278652.1:n.-90-13806C>T | |
| NR_073496.1:n.654-13806C>T | ||
| XM_011536546.1:c.-91+4487C>T | XP_011534848.1:n.-91+4487C>T | |
| XM_017021079.1:c.-90-13806C>T | XP_016876568.1:n.-90-13806C>T | |
| XM_017021080.1:c.-90-13806C>T | XP_016876569.1:n.-90-13806C>T | |
| XM_017021081.1:c.-90-13806C>T | XP_016876570.1:n.-90-13806C>T | |
| XM_017021082.1:c.-90-13806C>T | XP_016876571.1:n.-90-13806C>T | |
| XM_017021083.1:c.-90-13806C>T | XP_016876572.1:n.-90-13806C>T | |
| XM_017021084.1:c.-90-13806C>T | XP_016876573.1:n.-90-13806C>T | |
| NM_001291712.2:c.-91+652C>T | NP_001278641.1:n.-91+652C>T | |
| NR_073496.2:n.717-13806C>T |