Linked Data
dbSNP Id:
rs10022462
gnomAD v2:
4-89243818-C-T
gnomAD v3:
4-88322666-C-T
gnomAD v4:
4-88322666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88322666C>T , CM000666.2:g.88322666C>T | GRCh38 |
| NC_000004.11:g.89243818C>T , CM000666.1:g.89243818C>T | GRCh37 |
| NC_000004.10:g.89462842C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_244670.3:n.641+3241C>T | ||
| XR_938963.1:n.641+3241C>T | ||
| NR_134236.1:n.425+3241C>T | ||
| NR_134237.1:n.349+3241C>T | ||
| NR_134238.1:n.330+5859C>T |