Canonical Allele Identifier: CA337437960
Gene:

Linked Data

dbSNP Id: rs111319867
gnomAD v3: Y-2791306-A-C
gnomAD v4: Y-2791306-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2791306A>C , CM000686.2:g.2791306A>C GRCh38
NC_000024.9:g.2659347A>C , CM000686.1:g.2659347A>C GRCh37
NC_000024.8:g.2719347A>C NCBI36
NG_011751.1:g.1446T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+16567A>C
ENST00000681787.1:n.106+16567A>C
ENST00000681940.1:n.106+16567A>C