Canonical Allele Identifier: CA576613525
Gene:

Linked Data

dbSNP Id: rs1351607391
gnomAD v2: 7-97017676-G-C
gnomAD v3: 7-97388364-G-C
gnomAD v4: 7-97388364-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388364G>C , CM000669.2:g.97388364G>C GRCh38
NC_000007.13:g.97017676G>C , CM000669.1:g.97017676G>C GRCh37
NC_000007.12:g.96855612G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745293.1:n.127-59717C>G