Canonical Allele Identifier: CA337714037
Gene:

Linked Data

dbSNP Id: rs200861659

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12383440T>C , CM000686.2:g.12383440T>C GRCh38
NC_000024.9:g.14495243T>C , CM000686.1:g.14495243T>C GRCh37
NC_000024.8:g.13005251T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000443820.2:n.1286+137T>C
ENST00000651802.1:n.450+22944A>G
ENST00000651835.1:n.319+23356A>G
ENST00000382966.5:n.283+23356A>G
ENST00000443820.1:n.734+137T>C
ENST00000493160.5:n.803-110A>G
XR_001756061.1:n.609-4691A>G