Canonical Allele Identifier: CA818581831
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.126530014C>G , CM000668.2:g.126530014C>G GRCh38
NC_000006.11:g.126851160C>G , CM000668.1:g.126851160C>G GRCh37
NC_000006.10:g.126892853C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650727.1:n.3036+1649G>C
ENST00000651326.1:n.2289+43758G>C
ENST00000652383.1:n.630+1649G>C
ENST00000652545.1:n.3346+1649G>C