Canonical Allele Identifier: CA337713990
Gene:

Linked Data

dbSNP Id: rs201671027

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379868T>C , CM000686.2:g.12379868T>C GRCh38
NC_000024.9:g.14491671T>C , CM000686.1:g.14491671T>C GRCh37
NC_000024.8:g.13001679T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000443820.2:n.989+2046T>C
ENST00000651802.1:n.450+26516A>G
ENST00000651835.1:n.319+26928A>G
ENST00000382966.5:n.284-25097A>G
ENST00000443820.1:n.438-2468T>C
XR_001756061.1:n.609-1119A>G