Linked Data
dbSNP Id:
rs144294997
gnomAD v2:
21-30149059-T-C
gnomAD v3:
21-28776737-T-C
gnomAD v4:
21-28776737-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.28776737T>C , CM000683.2:g.28776737T>C | GRCh38 |
| NC_000021.8:g.30149059T>C , CM000683.1:g.30149059T>C | GRCh37 |
| NC_000021.7:g.29070930T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_001754830.1:n.934+45168A>G | ||
| XR_002958591.1:n.4507-4599A>G |