Canonical Allele Identifier: CA12321034

Linked Data

dbSNP Id: rs1266078
gnomAD v2: 6-31622043-T-G
gnomAD v3: 6-31654266-T-G
gnomAD v4: 6-31654266-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31654266T>G , CM000668.2:g.31654266T>G GRCh38
NC_000006.11:g.31622043T>G , CM000668.1:g.31622043T>G GRCh37
NC_000006.10:g.31730022T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000375918.6:c.-103+1715T>G (APOM) ENSP00000365083.2:n.-103+1715T>G
ENST00000375920.8:c.-103+1715T>G (APOM) ENSP00000365085.4:n.-103+1715T>G
NM_001256169.1:c.-103+1715T>G (APOM) NP_001243098.1:n.-103+1715T>G
NR_045828.1:n.142+1715T>G (APOM)
XM_011514895.1:c.-13-2490A>C (BAG6) XP_011513197.1:n.-13-2490A>C
XM_017011279.2:c.-13-2490A>C (BAG6) XP_016866768.1:n.-13-2490A>C
XM_024446545.1:c.-13-2490A>C (BAG6) XP_024302313.1:n.-13-2490A>C
NM_001256169.2:c.-103+1715T>G (APOM) NP_001243098.1:n.-103+1715T>G
NR_045828.2:n.148+1715T>G (APOM)