Linked Data
dbSNP Id:
rs10097215
gnomAD v2:
8-2506899-C-T
gnomAD v3:
8-2649382-C-T
gnomAD v4:
8-2649382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649382C>T , CM000670.2:g.2649382C>T | GRCh38 |
| NC_000008.10:g.2506899C>T , CM000670.1:g.2506899C>T | GRCh37 |
| NC_000008.9:g.2494306C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125425.1:n.238+25348G>A |