Canonical Allele Identifier: CA2506369387
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793458G>A , CM000676.2:g.20793458G>A GRCh38
NC_000014.8:g.21261617G>A , CM000676.1:g.21261617G>A GRCh37
NC_000014.7:g.20331457G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+672G>A
XR_943585.1:n.585+672G>A
XR_001750620.1:n.3271+672G>A
XR_001750621.1:n.3271+672G>A
XR_001750622.1:n.637+6446C>T
XR_001750623.1:n.637+6446C>T
XR_001750624.1:n.637+6446C>T
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