Linked Data
gnomAD v4:
10-87863550-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863550C>G , CM000672.2:g.87863550C>G | GRCh38 |
| NC_000010.10:g.89623307C>G , CM000672.1:g.89623307C>G | GRCh37 |
| NC_000010.9:g.89613287C>G | NCBI36 |
| NG_007466.2:g.5113C>G , LRG_311:g.5113C>G | |
| NG_033079.1:g.4888G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-904C>G | ENSP00000516674.1:n.-16-904C>G | |
| ENST00000688308.1:c.-17+437C>G | ENSP00000508752.1:n.-17+437C>G | |
| ENST00000693560.1:c.-400C>G | ENSP00000509861.1:n.-400C>G | |
| ENST00000371953.7:c.-920C>G | ENSP00000361021.3:n.-920C>G | |
| ENST00000610634.1:c.-1022C>G | ENSP00000477517.1:n.-1022C>G | |
| NM_000314.5:c.-919C>G | NP_000305.3:n.-919C>G | |
| NM_000314.6:c.-919C>G | NP_000305.3:n.-919C>G | |
| NM_001304717.2:c.-400C>G | NP_001291646.2:n.-400C>G | |
| NM_001304718.1:c.-1624C>G | NP_001291647.1:n.-1624C>G |