Canonical Allele Identifier: CA158340765
Gene:

Linked Data

dbSNP Id: rs17513961
gnomAD v2: 7-46392567-T-G
gnomAD v3: 7-46352969-T-G
gnomAD v4: 7-46352969-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.46352969T>G , CM000669.2:g.46352969T>G GRCh38
NC_000007.13:g.46392567T>G , CM000669.1:g.46392567T>G GRCh37
NC_000007.12:g.46359092T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927241.1:n.3138T>G
XR_927242.1:n.3046T>G
XR_927241.2:n.3138T>G
XR_927242.2:n.3103T>G