Canonical Allele Identifier: CA427349449
Gene:

Linked Data

dbSNP Id: rs375646675
gnomAD v2: 2-88315913-G-C
gnomAD v3: 2-88016394-G-C
gnomAD v4: 2-88016394-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016394G>C , CM000664.2:g.88016394G>C GRCh38
NC_000002.11:g.88315913G>C , CM000664.1:g.88315913G>C GRCh37
NC_000002.10:g.88097028G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.739G>C
XR_940336.3:n.739G>C