Canonical Allele Identifier: CA337714068
Gene:

Linked Data

dbSNP Id: rs60115999

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12385412A>C , CM000686.2:g.12385412A>C GRCh38
NC_000024.9:g.14497207A>C , CM000686.1:g.14497207A>C GRCh37
NC_000024.8:g.13007215A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000443820.2:n.1408+982A>C
ENST00000651802.1:n.450+20972T>G
ENST00000651835.1:n.319+21384T>G
ENST00000382966.5:n.283+21384T>G
ENST00000443820.1:n.856+982A>C
ENST00000493160.5:n.803-2082T>G
XR_001756061.1:n.609-6663T>G