Canonical Allele Identifier: CA337714047
Gene:

Linked Data

dbSNP Id: rs72622299

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384315C>T , CM000686.2:g.12384315C>T GRCh38
NC_000024.9:g.14496118C>T , CM000686.1:g.14496118C>T GRCh37
NC_000024.8:g.13006126C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000443820.2:n.1293C>T
ENST00000651802.1:n.450+22069G>A
ENST00000651835.1:n.319+22481G>A
ENST00000382966.5:n.283+22481G>A
ENST00000443820.1:n.741C>T
ENST00000493160.5:n.803-985G>A
XR_001756061.1:n.609-5566G>A