Canonical Allele Identifier: CA11651523
Gene:

Linked Data

dbSNP Id: rs1458038
gnomAD v2: 4-81164723-C-T
gnomAD v3: 4-80243569-C-T
gnomAD v4: 4-80243569-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80243569C>T , CM000666.2:g.80243569C>T GRCh38
NC_000004.11:g.81164723C>T , CM000666.1:g.81164723C>T GRCh37
NC_000004.10:g.81383747C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938930.1:n.186+11283C>T