Canonical Allele Identifier: CA122895943
Gene:

Linked Data

dbSNP Id: rs368473626
gnomAD v2: 5-91518562-C-T
gnomAD v3: 5-92222745-C-T
gnomAD v4: 5-92222745-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222745C>T , CM000667.2:g.92222745C>T GRCh38
NC_000005.9:g.91518562C>T , CM000667.1:g.91518562C>T GRCh37
NC_000005.8:g.91554318C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+18061C>T