Canonical Allele Identifier:
CA2685463864
Gene:
Linked Data
gnomAD v4:
7-148807244-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807244C>A , CM000669.2:g.148807244C>A | GRCh38 |
| NC_000007.13:g.148504336C>A , CM000669.1:g.148504336C>A | GRCh37 |
| NC_000007.12:g.148135269C>A | NCBI36 |
| NG_032043.1:g.82106G>T , LRG_531:g.82106G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928101.1:n.515+2159C>A | ||
| XR_928102.1:n.722+2159C>A |