Linked Data
dbSNP Id:
rs1244423824
gnomAD v2:
10-14478429-G-A
gnomAD v3:
10-14436430-G-A
gnomAD v4:
10-14436430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14436430G>A , CM000672.2:g.14436430G>A | GRCh38 |
| NC_000010.10:g.14478429G>A , CM000672.1:g.14478429G>A | GRCh37 |
| NC_000010.9:g.14518435G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475141.2:c.-305+25638C>T | ENSP00000473870.1:n.-305+25638C>T | |
| ENST00000493380.5:c.-82+25638C>T | ENSP00000474863.1:n.-82+25638C>T |