Canonical Allele Identifier: CA1029769998
Gene:

Linked Data

dbSNP Id: rs1667991668
gnomAD v3: 2-41534662-G-T
gnomAD v4: 2-41534662-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.41534662G>T , CM000664.2:g.41534662G>T GRCh38
NC_000002.11:g.41761802G>T , CM000664.1:g.41761802G>T GRCh37
NC_000002.10:g.41615306G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939996.1:n.181+3064C>A
XR_939997.1:n.146+3064C>A
XR_939997.2:n.9529+3064C>A