Canonical Allele Identifier: CA8510497
Gene:

Genomic Alleles

HGVS Genome Assembly
NT_187661.1:g.252338A>G , KI270909.1:g.252338A>G
NC_000017.10:g.34625603A>G , CM000679.1:g.34625603A>G GRCh37
NC_000017.9:g.31649716A>G NCBI36
NG_023369.1:g.5128T>C

Transcript Alleles

HGVS Amino-acid Change
NM_021006.5:c.44T>C NP_066286.1:p.Met15Thr
NR_111964.1:n.129T>C