Canonical Allele Identifier: CA155828850
Gene:

Linked Data

dbSNP Id: rs150377477
gnomAD v2: 7-24323368-A-G
gnomAD v3: 7-24283749-A-G
gnomAD v4: 7-24283749-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24283749A>G , CM000669.2:g.24283749A>G GRCh38
NC_000007.13:g.24323368A>G , CM000669.1:g.24323368A>G GRCh37
NC_000007.12:g.24289893A>G NCBI36
NG_016148.1:g.4562A>G

Transcript Alleles

HGVS Amino-acid change
XM_017012910.1:c.42-28050T>C XP_016868399.1:n.42-28050T>C
XM_017012911.1:c.42-28050T>C XP_016868400.1:n.42-28050T>C
XR_001745121.1:n.473+35608T>C
XR_001745122.1:n.345-86720T>C
XR_001745123.1:n.473+35608T>C
XR_001745124.1:n.473+35608T>C
XR_001745125.1:n.473+35608T>C
XR_001745126.1:n.473+35608T>C
XR_001745127.1:n.345-28050T>C
XR_001745129.1:n.473+35608T>C
XR_001745130.1:n.473+35608T>C
XR_001745131.1:n.473+35608T>C
XR_001745132.1:n.473+35608T>C