Canonical Allele Identifier: CA175153912
Gene:

Linked Data

dbSNP Id: rs1055244588
gnomAD v2: 8-33665667-G-T
gnomAD v3: 8-33808149-G-T
gnomAD v4: 8-33808149-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.33808149G>T , CM000670.2:g.33808149G>T GRCh38
NC_000008.10:g.33665667G>T , CM000670.1:g.33665667G>T GRCh37
NC_000008.9:g.33785209G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_949659.1:n.240+11713G>T
XR_002956701.1:n.240+11713G>T