Canonical Allele Identifier: CA136479703
Gene:

Linked Data

dbSNP Id: rs953697915
gnomAD v2: 6-23077320-G-T
gnomAD v3: 6-23077092-G-T
gnomAD v4: 6-23077092-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.23077092G>T , CM000668.2:g.23077092G>T GRCh38
NC_000006.11:g.23077320G>T , CM000668.1:g.23077320G>T GRCh37
NC_000006.10:g.23185299G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926583.1:n.246-20025C>A
XR_926584.1:n.246-60272C>A
XR_926583.2:n.246-20025C>A