Canonical Allele Identifier: CA829389471
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.88403098C>G , CM000668.2:g.88403098C>G GRCh38
NC_000006.11:g.89112817C>G , CM000668.1:g.89112817C>G GRCh37
NC_000006.10:g.89169536C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_942759.1:n.315+38986G>C
XR_942760.1:n.315+38986G>C
XR_942761.1:n.315+38986G>C
XR_942762.1:n.176+38986G>C
XR_001744248.2:n.330+38986G>C
XR_001744250.1:n.321+38986G>C
XR_001744251.1:n.321+38986G>C
XR_001744252.2:n.321+38986G>C
XR_001744253.1:n.394+38986G>C
XR_942759.2:n.321+38986G>C