Canonical Allele Identifier:
CA143036982
Gene:
Linked Data
dbSNP Id:
rs1577917
gnomAD v2:
6-86691940-C-T
gnomAD v3:
6-85982222-C-T
gnomAD v4:
6-85982222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85982222C>T , CM000668.2:g.85982222C>T | GRCh38 |
| NC_000006.11:g.86691940C>T , CM000668.1:g.86691940C>T | GRCh37 |
| NC_000006.10:g.86748659C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_241869.3:n.615-11158C>T | ||
| XR_942747.1:n.41-1147C>T | ||
| XR_942748.1:n.27-1147C>T | ||
| XR_001744239.1:n.1570-11158C>T | ||
| XR_001744243.1:n.1433-11158C>T | ||
| XR_002956361.1:n.1992-11158C>T |