Canonical Allele Identifier: CA1138669501
Gene:

Linked Data

gnomAD v3: Y-2800284-A-G
gnomAD v4: Y-2800284-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2800284A>G , CM000686.2:g.2800284A>G GRCh38
NC_000024.9:g.2668325A>G , CM000686.1:g.2668325A>G GRCh37
NC_000024.8:g.2728325A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+25545A>G
ENST00000681787.1:n.106+25545A>G
ENST00000681940.1:n.106+25545A>G