Canonical Allele Identifier: CA337441518
Gene:

Linked Data

dbSNP Id: rs2032652
gnomAD v3: Y-19755427-T-C
gnomAD v4: Y-19755427-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.19755427T>C , CM000686.2:g.19755427T>C GRCh38
NC_000024.9:g.21917313T>C , CM000686.1:g.21917313T>C GRCh37
NC_000024.8:g.20376701T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_938630.1:n.1238T>C
XR_001756067.2:n.1339T>C
XR_001756068.2:n.1236+103T>C
XR_938630.3:n.1238T>C