Canonical Allele Identifier: CA2762206130
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554139T>C , CM000666.2:g.74554139T>C GRCh38
NC_000004.11:g.75419856T>C , CM000666.1:g.75419856T>C GRCh37
NC_000004.10:g.75638720T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1307A>G