Canonical Allele Identifier: CA2210030190
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15947911G>T , CM000678.2:g.15947911G>T GRCh38
NC_000016.9:g.16041768G>T , CM000678.1:g.16041768G>T GRCh37
NC_000016.8:g.15949269G>T NCBI36
NG_028268.1:g.3335G>T
NG_028268.2:g.3335G>T

Transcript Alleles

HGVS Amino-acid Change
XR_001752339.1:n.594+880C>A