Canonical Allele Identifier: CA136859125
Gene:

Linked Data

dbSNP Id: rs1041645777
gnomAD v3: 6-31440114-C-T
gnomAD v4: 6-31440114-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440114C>T , CM000668.2:g.31440114C>T GRCh38
NC_000006.11:g.31407891C>T , CM000668.1:g.31407891C>T GRCh37
NC_000006.10:g.31515870C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-62G>A