Linked Data
dbSNP Id:
rs1563409103
gnomAD v2:
8-11348933-G-A
gnomAD v3:
8-11491424-G-A
gnomAD v4:
8-11491424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491424G>A , CM000670.2:g.11491424G>A | GRCh38 |
| NC_000008.10:g.11348933G>A , CM000670.1:g.11348933G>A | GRCh37 |
| NC_000008.9:g.11386342G>A | NCBI36 |
| NG_023543.1:g.2413G>A | |
| NG_023543.2:g.2413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4257G>A | ||
| ENST00000696154.1:c.-91+4257G>A | ENSP00000512445.1:n.-91+4257G>A | |
| ENST00000645242.1:c.-91+4257G>A | ENSP00000494690.1:n.-91+4257G>A |