Canonical Allele Identifier:
CA2063467529
Community Standard Title: NC_000012.12:g.111757172T>G
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111757172T>G , CM000674.2:g.111757172T>G | GRCh38 |
| NC_000012.11:g.112194976T>G , CM000674.1:g.112194976T>G | GRCh37 |
| NC_000012.10:g.110679359T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000546840.2:c.99+1427T>G | ENSP00000450353.3:n.99+1427T>G |
| ENST00000546840.3:c.104+1427T>G |