Linked Data
dbSNP Id:
rs1092913
gnomAD v2:
5-10467702-G-A
gnomAD v3:
5-10467590-G-A
gnomAD v4:
5-10467590-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10467590G>A , CM000667.2:g.10467590G>A | GRCh38 |
| NC_000005.9:g.10467702G>A , CM000667.1:g.10467702G>A | GRCh37 |
| NC_000005.8:g.10520702G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510520.5:n.886-4220G>A | ||
| XM_006714503.2:c.593+6231G>A | XP_006714566.1:n.593+6231G>A | |
| XM_006714504.2:c.593+6231G>A | XP_006714567.1:n.593+6231G>A | |
| XM_006714504.3:c.593+6231G>A | XP_006714567.1:n.593+6231G>A | |
| XM_017009946.2:c.594-4220G>A | XP_016865435.1:n.594-4220G>A | |
| XM_017009947.2:c.593+6231G>A | XP_016865436.1:n.593+6231G>A |