Canonical Allele Identifier: CA16060381
Gene:

Linked Data

dbSNP Id: rs2390582
gnomAD v2: 1-90943907-A-G
gnomAD v3: 1-90478350-A-G
gnomAD v4: 1-90478350-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.90478350A>G , CM000663.2:g.90478350A>G GRCh38
NC_000001.10:g.90943907A>G , CM000663.1:g.90943907A>G GRCh37
NC_000001.9:g.90716495A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947591.1:n.139+418T>C
XR_947591.2:n.151+418T>C