Canonical Allele Identifier: CA573373517
Gene:

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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