Linked Data
dbSNP Id:
rs2987983
gnomAD v2:
14-64763653-A-G
gnomAD v3:
14-64296935-A-G
gnomAD v4:
14-64296935-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64296935A>G , CM000676.2:g.64296935A>G | GRCh38 |
| NC_000014.8:g.64763653A>G , CM000676.1:g.64763653A>G | GRCh37 |
| NC_000014.7:g.63833406A>G | NCBI36 |
| NG_011535.1:g.46616T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358599.9:c.-90-13860T>C | ENSP00000351412.5:n.-90-13860T>C | |
| ENST00000554572.5:c.-91+598T>C | ENSP00000450699.1:n.-91+598T>C | |
| NM_001291712.1:c.-91+598T>C | NP_001278641.1:n.-91+598T>C | |
| NM_001291723.1:c.-90-13860T>C | NP_001278652.1:n.-90-13860T>C | |
| NR_073496.1:n.654-13860T>C | ||
| XM_011536546.1:c.-91+4433T>C | XP_011534848.1:n.-91+4433T>C | |
| XM_017021079.1:c.-90-13860T>C | XP_016876568.1:n.-90-13860T>C | |
| XM_017021080.1:c.-90-13860T>C | XP_016876569.1:n.-90-13860T>C | |
| XM_017021081.1:c.-90-13860T>C | XP_016876570.1:n.-90-13860T>C | |
| XM_017021082.1:c.-90-13860T>C | XP_016876571.1:n.-90-13860T>C | |
| XM_017021083.1:c.-90-13860T>C | XP_016876572.1:n.-90-13860T>C | |
| XM_017021084.1:c.-90-13860T>C | XP_016876573.1:n.-90-13860T>C | |
| NM_001291712.2:c.-91+598T>C | NP_001278641.1:n.-91+598T>C | |
| NR_073496.2:n.717-13860T>C |