Canonical Allele Identifier: CA785691799
Gene:

Linked Data

dbSNP Id: rs1279523237
gnomAD v3: 4-11501995-A-G
gnomAD v4: 4-11501995-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.11501995A>G , CM000666.2:g.11501995A>G GRCh38
NC_000004.11:g.11503619A>G , CM000666.1:g.11503619A>G GRCh37
NC_000004.10:g.11112717A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001741361.1:n.950+19149A>G