Canonical Allele Identifier: CA155828710
Gene:

Linked Data

dbSNP Id: rs888437034
gnomAD v3: 7-24282669-A-G
gnomAD v4: 7-24282669-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24282669A>G , CM000669.2:g.24282669A>G GRCh38
NC_000007.13:g.24322288A>G , CM000669.1:g.24322288A>G GRCh37
NC_000007.12:g.24288813A>G NCBI36
NG_016148.1:g.3482A>G

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-26970T>C XP_016868399.1:n.42-26970T>C
XM_017012911.1:c.42-26970T>C XP_016868400.1:n.42-26970T>C
XR_001745121.1:n.473+36688T>C
XR_001745122.1:n.345-85640T>C
XR_001745123.1:n.473+36688T>C
XR_001745124.1:n.473+36688T>C
XR_001745125.1:n.473+36688T>C
XR_001745126.1:n.473+36688T>C
XR_001745127.1:n.345-26970T>C
XR_001745129.1:n.473+36688T>C
XR_001745130.1:n.473+36688T>C
XR_001745131.1:n.473+36688T>C
XR_001745132.1:n.473+36688T>C