Canonical Allele Identifier:
CA2649624447
Gene:
Linked Data
gnomAD v4:
1-193121946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193121946C>T , CM000663.2:g.193121946C>T | GRCh38 |
| NC_000001.10:g.193091076C>T , CM000663.1:g.193091076C>T | GRCh37 |
| NC_000001.9:g.191357699C>T | NCBI36 |
| NG_012691.1:g.4989C>T , LRG_507:g.4989C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001738350.1:n.1711G>A |