Canonical Allele Identifier: CA1838661487
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21035308G>C , CM000671.2:g.21035308G>C GRCh38
NC_000009.11:g.21035307G>C , CM000671.1:g.21035307G>C GRCh37
NC_000009.10:g.21025307G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929514.1:n.1210+1812G>C
XR_001746633.1:n.1142+2657G>C
XR_929514.2:n.1276+1812G>C