Canonical Allele Identifier: CA8510502
Community Standard Title: NT_187661.1:g.252354C>T
Gene:

Genomic Alleles

HGVS Genome Assembly
NT_187661.1:g.252354C>T , KI270909.1:g.252354C>T
NC_000017.10:g.34625619C>T , CM000679.1:g.34625619C>T GRCh37
NC_000017.9:g.31649732C>T NCBI36
NG_023369.1:g.5112G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021006.5:c.28G>A NP_066286.1:p.Val10Ile
NR_111964.1:n.113G>A