Canonical Allele Identifier: CA310322160
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1778944C>G , CM000682.2:g.1778944C>G GRCh38
NC_000020.10:g.1759590C>G , CM000682.1:g.1759590C>G GRCh37
NC_000020.9:g.1707590C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000418979.2:n.335-96G>C
ENST00000458670.1:n.86-96G>C
NR_037142.1:n.86-96G>C