Canonical Allele Identifier: CA2838492098
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.130846051T>C , CM000665.2:g.130846051T>C GRCh38
NC_000003.11:g.130564895T>C , CM000665.1:g.130564895T>C GRCh37
NC_000003.10:g.132047585T>C NCBI36
NG_007379.2:g.527T>C

Transcript Alleles

HGVS Amino-acid Change
XR_924486.1:n.220-534T>C
XR_001740492.1:n.1175+2797A>G
XR_924486.2:n.225-534T>C