Linked Data
gnomAD v4:
10-87863543-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863543A>G , CM000672.2:g.87863543A>G | GRCh38 |
| NC_000010.10:g.89623300A>G , CM000672.1:g.89623300A>G | GRCh37 |
| NC_000010.9:g.89613280A>G | NCBI36 |
| NG_007466.2:g.5106A>G , LRG_311:g.5106A>G | |
| NG_033079.1:g.4895T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-17+901A>G | ENSP00000516674.1:n.-17+901A>G | |
| ENST00000688308.1:c.-17+430A>G | ENSP00000508752.1:n.-17+430A>G | |
| ENST00000693560.1:c.-407A>G | ENSP00000509861.1:n.-407A>G | |
| ENST00000371953.7:c.-927A>G | ENSP00000361021.3:n.-927A>G | |
| ENST00000610634.1:c.-1029A>G | ENSP00000477517.1:n.-1029A>G | |
| NM_000314.5:c.-926A>G | NP_000305.3:n.-926A>G | |
| NM_000314.6:c.-926A>G | NP_000305.3:n.-926A>G | |
| NM_001304717.2:c.-407A>G | NP_001291646.2:n.-407A>G | |
| NM_001304718.1:c.-1631A>G | NP_001291647.1:n.-1631A>G |