Canonical Allele Identifier: CA838978904
Gene:

Linked Data

dbSNP Id: rs1216283955
gnomAD v3: 7-46353004-C-T
gnomAD v4: 7-46353004-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46353004C>T , CM000669.2:g.46353004C>T GRCh38
NC_000007.13:g.46392602C>T , CM000669.1:g.46392602C>T GRCh37
NC_000007.12:g.46359127C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927241.1:n.3173C>T
XR_927242.1:n.3081C>T
XR_927241.2:n.3173C>T
XR_927242.2:n.3138C>T