Canonical Allele Identifier: CA155829838
Gene:

Linked Data

dbSNP Id: rs774267662
gnomAD v2: 7-24331568-C-G
gnomAD v3: 7-24291949-C-G
gnomAD v4: 7-24291949-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24291949C>G , CM000669.2:g.24291949C>G GRCh38
NC_000007.13:g.24331568C>G , CM000669.1:g.24331568C>G GRCh37
NC_000007.12:g.24298093C>G NCBI36
NG_016148.1:g.12762C>G

Transcript Alleles

HGVS Amino-acid Change
XM_017012910.1:c.41+27408G>C XP_016868399.1:n.41+27408G>C
XM_017012911.1:c.41+27408G>C XP_016868400.1:n.41+27408G>C
XR_001745121.1:n.473+27408G>C
XR_001745122.1:n.345-94920G>C
XR_001745123.1:n.473+27408G>C
XR_001745124.1:n.473+27408G>C
XR_001745125.1:n.473+27408G>C
XR_001745126.1:n.473+27408G>C
XR_001745127.1:n.345-36250G>C
XR_001745129.1:n.473+27408G>C
XR_001745130.1:n.473+27408G>C
XR_001745131.1:n.473+27408G>C
XR_001745132.1:n.473+27408G>C