Linked Data
dbSNP Id:
rs1245541
gnomAD v2:
10-73849639-G-A
gnomAD v3:
10-72089881-G-A
gnomAD v4:
10-72089881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72089881G>A , CM000672.2:g.72089881G>A | GRCh38 |
| NC_000010.10:g.73849639G>A , CM000672.1:g.73849639G>A | GRCh37 |
| NC_000010.9:g.73519645G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_017016985.2:c.-286-1267C>T | XP_016872474.1:n.-286-1267C>T |