Linked Data
dbSNP Id:
rs9635542
gnomAD v2:
16-5001380-A-G
gnomAD v3:
16-4951379-A-G
gnomAD v4:
16-4951379-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4951379A>G , CM000678.2:g.4951379A>G | GRCh38 |
| NC_000016.9:g.5001380A>G , CM000678.1:g.5001380A>G | GRCh37 |
| NC_000016.8:g.4941381A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592772.1:c.-92+9185T>C | ENSP00000467699.1:n.-92+9185T>C |