Linked Data
dbSNP Id:
rs111426949
gnomAD v2:
5-10512697-C-T
gnomAD v3:
5-10512585-C-T
gnomAD v4:
5-10512585-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10512585C>T , CM000667.2:g.10512585C>T | GRCh38 |
| NC_000005.9:g.10512697C>T , CM000667.1:g.10512697C>T | GRCh37 |
| NC_000005.8:g.10565697C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_134289.1:n.330-6010G>A |