Canonical Allele Identifier: CA573373519
Gene:

Linked Data

dbSNP Id: rs1442818783
gnomAD v2: 7-24323456-A-G
gnomAD v3: 7-24283837-A-G
gnomAD v4: 7-24283837-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283837A>G , CM000669.2:g.24283837A>G GRCh38
NC_000007.13:g.24323456A>G , CM000669.1:g.24323456A>G GRCh37
NC_000007.12:g.24289981A>G NCBI36
NG_016148.1:g.4650A>G

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-28138T>C XP_016868399.1:n.42-28138T>C
XM_017012911.1:c.42-28138T>C XP_016868400.1:n.42-28138T>C
XR_001745121.1:n.473+35520T>C
XR_001745122.1:n.345-86808T>C
XR_001745123.1:n.473+35520T>C
XR_001745124.1:n.473+35520T>C
XR_001745125.1:n.473+35520T>C
XR_001745126.1:n.473+35520T>C
XR_001745127.1:n.345-28138T>C
XR_001745129.1:n.473+35520T>C
XR_001745130.1:n.473+35520T>C
XR_001745131.1:n.473+35520T>C
XR_001745132.1:n.473+35520T>C