Canonical Allele Identifier: CA92831141
Gene:

Linked Data

dbSNP Id: rs937393667
gnomAD v2: 4-11503471-A-G
gnomAD v3: 4-11501847-A-G
gnomAD v4: 4-11501847-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.11501847A>G , CM000666.2:g.11501847A>G GRCh38
NC_000004.11:g.11503471A>G , CM000666.1:g.11503471A>G GRCh37
NC_000004.10:g.11112569A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741361.1:n.950+19001A>G