Canonical Allele Identifier: CA1059337295
Gene:

Linked Data

dbSNP Id: rs1450977302
gnomAD v3: 4-11501842-A-T
gnomAD v4: 4-11501842-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.11501842A>T , CM000666.2:g.11501842A>T GRCh38
NC_000004.11:g.11503466A>T , CM000666.1:g.11503466A>T GRCh37
NC_000004.10:g.11112564A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741361.1:n.950+18996A>T