Canonical Allele Identifier: CA278115126
Gene:

Linked Data

dbSNP Id: rs1016336901
gnomAD v3: 16-9249620-C-T
gnomAD v4: 16-9249620-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249620C>T , CM000678.2:g.9249620C>T GRCh38
NC_000016.9:g.9343477C>T , CM000678.1:g.9343477C>T GRCh37
NC_000016.8:g.9250978C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64887C>T