Canonical Allele Identifier: CA875166195
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38351864G>C , CM000685.2:g.38351864G>C GRCh38
NC_000023.10:g.38211117G>C , CM000685.1:g.38211117G>C GRCh37
NC_000023.9:g.38096061G>C NCBI36
NG_008471.1:g.4382G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465127.1:c.172-314257G>C ENSP00000417050.1:n.172-314257G>C