Canonical Allele Identifier: CA863843115
Gene:

Linked Data

dbSNP Id: rs1369424250
gnomAD v3: 9-38456270-G-C
gnomAD v4: 9-38456270-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38456270G>C , CM000671.2:g.38456270G>C GRCh38
NC_000009.11:g.38456267G>C , CM000671.1:g.38456267G>C GRCh37
NC_000009.10:g.38446267G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000637760.2:n.649+77G>C
ENST00000685989.1:n.647+77G>C
ENST00000635962.1:n.647+77G>C
ENST00000636076.1:n.76+77G>C
ENST00000637760.1:n.649+77G>C