Canonical Allele Identifier: CA974496518
Gene:

Linked Data

dbSNP Id: rs1898215731
gnomAD v3: 16-9249544-G-T
gnomAD v4: 16-9249544-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249544G>T , CM000678.2:g.9249544G>T GRCh38
NC_000016.9:g.9343401G>T , CM000678.1:g.9343401G>T GRCh37
NC_000016.8:g.9250902G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64811G>T