Linked Data
dbSNP Id:
rs2645429
gnomAD v2:
8-11660051-A-G
gnomAD v3:
8-11802542-A-G
gnomAD v4:
8-11802542-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11802542A>G , CM000670.2:g.11802542A>G | GRCh38 |
| NC_000008.10:g.11660051A>G , CM000670.1:g.11660051A>G | GRCh37 |
| NC_000008.9:g.11697460A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530337.6:c.-75+87A>G | ENSP00000431852.2:n.-75+87A>G | |
| ENST00000530337.5:c.-75+87A>G | ENSP00000431852.1:n.-75+87A>G | |
| ENST00000538689.4:c.-93-6252A>G | ENSP00000444248.2:n.-93-6252A>G | |
| ENST00000615631.4:c.-74-217A>G | ENSP00000481481.1:n.-74-217A>G | |
| ENST00000618539.4:c.-75+87A>G | ENSP00000480828.1:n.-75+87A>G | |
| NM_001287742.1:c.-75+87A>G | NP_001274671.1:n.-75+87A>G | |
| NM_001287743.1:c.-74-217A>G | NP_001274672.1:n.-74-217A>G | |
| NM_001287744.1:c.-93-6252A>G | NP_001274673.1:n.-93-6252A>G | |
| NM_001287742.2:c.-75+87A>G | NP_001274671.1:n.-75+87A>G | |
| NM_001287743.2:c.-74-217A>G | NP_001274672.1:n.-74-217A>G | |
| NM_001287744.2:c.-93-6252A>G | NP_001274673.1:n.-93-6252A>G |