Canonical Allele Identifier: CA2548168437
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793530G>T , CM000676.2:g.20793530G>T GRCh38
NC_000014.8:g.21261689G>T , CM000676.1:g.21261689G>T GRCh37
NC_000014.7:g.20331529G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+744G>T
XR_943585.1:n.585+744G>T
XR_001750620.1:n.3271+744G>T
XR_001750621.1:n.3271+744G>T
XR_001750622.1:n.637+6374C>A
XR_001750623.1:n.637+6374C>A
XR_001750624.1:n.637+6374C>A