Canonical Allele Identifier: CA328690926
Gene:

Linked Data

dbSNP Id: rs113065570
gnomAD v2: X-33811841-C-T
gnomAD v3: X-33793724-C-T
gnomAD v4: X-33793724-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.33793724C>T , CM000685.2:g.33793724C>T GRCh38
NC_000023.10:g.33811841C>T , CM000685.1:g.33811841C>T GRCh37
NC_000023.9:g.33721762C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_950542.1:n.281-59891C>T
XR_950543.1:n.281-59891C>T
XR_950542.3:n.240-59891C>T