Linked Data
dbSNP Id:
rs1405460044
gnomAD v2:
4-3258593-C-A
gnomAD v3:
4-3256866-C-A
gnomAD v4:
4-3256866-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256866C>A , CM000666.2:g.3256866C>A | GRCh38 |
| NC_000004.11:g.3258593C>A , CM000666.1:g.3258593C>A | GRCh37 |
| NC_000004.10:g.3228391C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+1009C>A | ENSP00000425405.1:n.729+1009C>A | |
| ENST00000510580.1:c.765+973C>A | ENSP00000420966.1:n.765+973C>A | |
| XM_011513464.1:c.729+1009C>A | XP_011511766.1:n.729+1009C>A | |
| XR_924950.1:n.753+1009C>A |