Linked Data
dbSNP Id:
rs540835902
gnomAD v2:
12-109143311-C-A
gnomAD v3:
12-108749535-C-A
gnomAD v4:
12-108749535-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108749535C>A , CM000674.2:g.108749535C>A | GRCh38 |
| NC_000012.11:g.109143311C>A , CM000674.1:g.109143311C>A | GRCh37 |
| NC_000012.10:g.107667440C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945328.1:n.276+1860C>A | ||
| XM_024448916.1:c.-6+10403G>T | XP_024304684.1:n.-6+10403G>T | |
| XR_945328.3:n.276+1860C>A |