Linked Data
dbSNP Id:
rs1563687205
gnomAD v2:
8-91095368-A-G
gnomAD v3:
8-90083140-A-G
gnomAD v4:
8-90083140-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.90083140A>G , CM000670.2:g.90083140A>G | GRCh38 |
| NC_000008.10:g.91095368A>G , CM000670.1:g.91095368A>G | GRCh37 |
| NC_000008.9:g.91164544A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000514406.2:c.-92-1038T>C | ENSP00000430192.1:n.-92-1038T>C | |
| ENST00000520613.5:c.-92-1038T>C | ENSP00000430281.1:n.-92-1038T>C | |
| ENST00000523716.5:c.-92-1038T>C | ENSP00000429246.1:n.-92-1038T>C |