Canonical Allele Identifier: CA566344777
Gene:

Linked Data

dbSNP Id: rs1352638375
gnomAD v2: 6-31407911-C-T
gnomAD v3: 6-31440134-C-T
gnomAD v4: 6-31440134-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31440134C>T , CM000668.2:g.31440134C>T GRCh38
NC_000006.11:g.31407911C>T , CM000668.1:g.31407911C>T GRCh37
NC_000006.10:g.31515890C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926694.1:n.55-82G>A