Canonical Allele Identifier: CA337437959
Gene:

Linked Data

dbSNP Id: rs765577246
gnomAD v3: Y-2791265-G-C
gnomAD v4: Y-2791265-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2791265G>C , CM000686.2:g.2791265G>C GRCh38
NC_000024.9:g.2659306G>C , CM000686.1:g.2659306G>C GRCh37
NC_000024.8:g.2719306G>C NCBI36
NG_011751.1:g.1487C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+16526G>C
ENST00000681787.1:n.106+16526G>C
ENST00000681940.1:n.106+16526G>C