Canonical Allele Identifier: CA1595159467
Gene:

Linked Data

dbSNP Id: rs1580907250
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159580979G>C , CM000667.2:g.159580979G>C GRCh38
NC_000005.9:g.159007987G>C , CM000667.1:g.159007987G>C GRCh37
NC_000005.8:g.158940565G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941139.1:n.2075+544G>C
XR_941140.1:n.2075+544G>C
XR_941141.1:n.570+544G>C
XR_941139.2:n.2229+544G>C
Search 100 bp 5'
Search 100 bp 3'