Linked Data
dbSNP Id:
rs1490305134
gnomAD v2:
11-6411582-C-A
gnomAD v3:
11-6390352-C-A
gnomAD v4:
11-6390352-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390352C>A , CM000673.2:g.6390352C>A | GRCh38 |
| NC_000011.9:g.6411582C>A , CM000673.1:g.6411582C>A | GRCh37 |
| NC_000011.8:g.6368158C>A | NCBI36 |
| NG_011780.1:g.4928C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005253075.3:c.-247C>A | XP_005253132.1:n.-247C>A | |
| XM_011520303.1:c.-247C>A | XP_011518605.1:n.-247C>A | |
| XM_011520304.1:c.-247C>A | XP_011518606.1:n.-247C>A | |
| XR_930886.1:n.52C>A |