Canonical Allele Identifier: CA337437917
Gene:

Linked Data

dbSNP Id: rs748087062
gnomAD v3: Y-2789198-C-G
gnomAD v4: Y-2789198-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2789198C>G , CM000686.2:g.2789198C>G GRCh38
NC_000024.9:g.2657239C>G , CM000686.1:g.2657239C>G GRCh37
NC_000024.8:g.2717239C>G NCBI36
NG_011751.1:g.3554G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+14459C>G
ENST00000680285.1:n.320-551C>G
ENST00000681787.1:n.106+14459C>G
ENST00000681940.1:n.106+14459C>G