Canonical Allele Identifier:
CA1751418986
Gene:
Linked Data
dbSNP Id:
rs1463926485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807221C>T , CM000669.2:g.148807221C>T | GRCh38 |
| NC_000007.13:g.148504313C>T , CM000669.1:g.148504313C>T | GRCh37 |
| NC_000007.12:g.148135246C>T | NCBI36 |
| NG_032043.1:g.82129G>A , LRG_531:g.82129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928101.1:n.515+2136C>T | ||
| XR_928102.1:n.722+2136C>T |