Canonical Allele Identifier: CA851031757
Gene:

Linked Data

dbSNP Id: rs1434617083
gnomAD v3: 8-33808409-C-T
gnomAD v4: 8-33808409-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808409C>T , CM000670.2:g.33808409C>T GRCh38
NC_000008.10:g.33665927C>T , CM000670.1:g.33665927C>T GRCh37
NC_000008.9:g.33785469C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11973C>T
XR_002956701.1:n.240+11973C>T