Linked Data
dbSNP Id:
rs1319283128
gnomAD v2:
16-8891603-G-A
gnomAD v3:
16-8797746-G-A
gnomAD v4:
16-8797746-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8797746G>A , CM000678.2:g.8797746G>A | GRCh38 |
| NC_000016.9:g.8891603G>A , CM000678.1:g.8891603G>A | GRCh37 |
| NC_000016.8:g.8799104G>A | NCBI36 |
| NG_009209.1:g.4934G>A | |
| NG_033146.1:g.4903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.-137G>A | ENSP00000507849.1:n.-137G>A | |
| ENST00000566983.5:c.-15-4053G>A | ENSP00000457956.1:n.-15-4053G>A |