Canonical Allele Identifier: CA278115116
Gene:

Linked Data

dbSNP Id: rs960377918
gnomAD v3: 16-9249548-A-T
gnomAD v4: 16-9249548-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249548A>T , CM000678.2:g.9249548A>T GRCh38
NC_000016.9:g.9343405A>T , CM000678.1:g.9343405A>T GRCh37
NC_000016.8:g.9250906A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64815A>T