Canonical Allele Identifier: CA337714091
Gene:

Linked Data

dbSNP Id: rs34297606

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387195C>T , CM000686.2:g.12387195C>T GRCh38
NC_000024.9:g.14498990C>T , CM000686.1:g.14498990C>T GRCh37
NC_000024.8:g.13008998C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000443820.2:n.1634C>T
ENST00000651802.1:n.450+19189G>A
ENST00000651835.1:n.319+19601G>A
ENST00000382966.5:n.283+19601G>A
ENST00000443820.1:n.1082C>T
ENST00000493160.5:n.803-3865G>A
XR_001756061.1:n.609-8446G>A