Canonical Allele Identifier: CA10833519
Gene:

Linked Data

dbSNP Id: rs4654903
gnomAD v2: 1-20200990-A-G
gnomAD v3: 1-19874497-A-G
gnomAD v4: 1-19874497-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19874497A>G , CM000663.2:g.19874497A>G GRCh38
NC_000001.10:g.20200990A>G , CM000663.1:g.20200990A>G GRCh37
NC_000001.9:g.20073577A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947027.1:n.266-8745T>C
XR_947028.1:n.266-8745T>C
XR_947027.2:n.167-8745T>C
XR_947028.2:n.167-8745T>C