Canonical Allele Identifier: CA92831158
Gene:

Linked Data

dbSNP Id: rs1390096
gnomAD v2: 4-11503604-G-A
gnomAD v3: 4-11501980-G-A
gnomAD v4: 4-11501980-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.11501980G>A , CM000666.2:g.11501980G>A GRCh38
NC_000004.11:g.11503604G>A , CM000666.1:g.11503604G>A GRCh37
NC_000004.10:g.11112702G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001741361.1:n.950+19134G>A