Canonical Allele Identifier: CA2023384268
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26300350A>T , CM000674.2:g.26300350A>T GRCh38
NC_000012.11:g.26453283A>T , CM000674.1:g.26453283A>T GRCh37
NC_000012.10:g.26344550A>T NCBI36
NG_012011.2:g.183360A>T , LRG_209:g.183360A>T

Transcript Alleles

HGVS Amino-acid Change
XR_931450.1:n.1140-773A>T
XR_931451.1:n.989-773A>T
XR_931452.1:n.988+1925A>T
XR_001749052.1:n.2270-773A>T
XR_001749053.1:n.2270-773A>T
XR_931451.2:n.1389-773A>T
XR_931452.2:n.1388+1925A>T