Canonical Allele Identifier: CA560796653
Gene:

Linked Data

dbSNP Id: rs1374962837
gnomAD v2: 5-91518498-A-T
gnomAD v3: 5-92222681-A-T
gnomAD v4: 5-92222681-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.92222681A>T , CM000667.2:g.92222681A>T GRCh38
NC_000005.9:g.91518498A>T , CM000667.1:g.91518498A>T GRCh37
NC_000005.8:g.91554254A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948565.1:n.394+17997A>T