Linked Data
dbSNP Id:
rs17439299
gnomAD v2:
11-15620586-A-G
gnomAD v3:
11-15599040-A-G
gnomAD v4:
11-15599040-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.15599040A>G , CM000673.2:g.15599040A>G | GRCh38 |
| NC_000011.9:g.15620586A>G , CM000673.1:g.15620586A>G | GRCh37 |
| NC_000011.8:g.15577162A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_931072.1:n.445-9790T>C | ||
| XR_931073.1:n.444-9790T>C | ||
| XR_931074.1:n.445-13749T>C | ||
| XR_931075.1:n.444+23265T>C | ||
| XR_931076.1:n.169-4892A>G | ||
| XR_931077.1:n.443-4892A>G | ||
| XR_931072.3:n.445-9790T>C | ||
| XR_931075.2:n.444+23265T>C | ||
| XR_931076.3:n.506-4892A>G | ||
| NR_169502.1:n.587+13238A>G | ||
| NR_169503.1:n.505+13238A>G | ||
| NR_169504.1:n.506-4892A>G | ||
| NR_169505.1:n.506-3662A>G | ||
| NR_169506.1:n.1097-3662A>G |