Canonical Allele Identifier: CA98367586
Gene:

Linked Data

dbSNP Id: rs977857732
gnomAD v2: 4-63424104-A-C
gnomAD v3: 4-62558386-A-C
gnomAD v4: 4-62558386-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.62558386A>C , CM000666.2:g.62558386A>C GRCh38
NC_000004.11:g.63424104A>C , CM000666.1:g.63424104A>C GRCh37
NC_000004.10:g.63106699A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938814.1:n.161-5458A>C