Canonical Allele Identifier:
CA612775456
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109599813G>T , CM000675.2:g.109599813G>T | GRCh38 |
| NC_000013.10:g.110252160G>T , CM000675.1:g.110252160G>T | GRCh37 |
| NC_000013.9:g.109050161G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931719.1:n.385+6396C>A | ||
| XR_931720.1:n.887+131130C>A | ||
| XR_931721.1:n.887+131130C>A | ||
| XR_001750012.1:n.2787G>T | ||
| XR_001750013.1:n.2021G>T | ||
| XR_001750014.1:n.2839G>T | ||
| XR_001750015.1:n.2263G>T | ||
| XR_001750016.1:n.1345G>T |