Linked Data
dbSNP Id:
rs1046078040
gnomAD v2:
16-68771182-C-A
gnomAD v3:
16-68737279-C-A
gnomAD v4:
16-68737279-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737279C>A , CM000678.2:g.68737279C>A | GRCh38 |
| NC_000016.9:g.68771182C>A , CM000678.1:g.68771182C>A | GRCh37 |
| NC_000016.8:g.67328683C>A | NCBI36 |
| NG_008021.1:g.4988C>A , LRG_301:g.4988C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.9:c.-137C>A | ENSP00000261769.4:n.-137C>A |