Canonical Allele Identifier: CA1112576839
Gene:

Linked Data

dbSNP Id: rs1802341026
gnomAD v3: 8-33808211-A-T
gnomAD v4: 8-33808211-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808211A>T , CM000670.2:g.33808211A>T GRCh38
NC_000008.10:g.33665729A>T , CM000670.1:g.33665729A>T GRCh37
NC_000008.9:g.33785271A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_949659.1:n.240+11775A>T
XR_002956701.1:n.240+11775A>T