Linked Data
dbSNP Id:
rs539190983
gnomAD v2:
7-41811777-T-C
gnomAD v3:
7-41772179-T-C
gnomAD v4:
7-41772179-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41772179T>C , CM000669.2:g.41772179T>C | GRCh38 |
| NC_000007.13:g.41811777T>C , CM000669.1:g.41811777T>C | GRCh37 |
| NC_000007.12:g.41778302T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027118.1:n.359-717T>C | ||
| NR_027118.2:n.356-717T>C | ||
| XR_001745185.1:n.964+36465T>C | ||
| XR_001745186.1:n.954+36475T>C |