Canonical Allele Identifier: CA337439093
Gene:

Linked Data

dbSNP Id: rs113881366
gnomAD v3: Y-2818514-A-G
gnomAD v4: Y-2818514-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2818514A>G , CM000686.2:g.2818514A>G GRCh38
NC_000024.9:g.2686555A>G , CM000686.1:g.2686555A>G GRCh37
NC_000024.8:g.2746555A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.107-22972A>G
ENST00000681787.1:n.107-22514A>G
ENST00000681940.1:n.107-27132A>G