Canonical Allele Identifier: CA2838217094
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.18691012C>G , CM000664.2:g.18691012C>G GRCh38
NC_000002.11:g.18872278C>G , CM000664.1:g.18872278C>G GRCh37
NC_000002.10:g.18735759C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939775.1:n.336+2684C>G
XR_001739308.1:n.567+46712C>G
XR_001739309.1:n.1024+2684C>G
XR_001739310.1:n.565+46712C>G
XR_001739311.1:n.686+2684C>G
XR_001739312.1:n.697+46712C>G
XR_002959371.1:n.697+46712C>G
XR_939776.2:n.1327C>G