Canonical Allele Identifier: CA2269954630
Gene:

Linked Data

dbSNP Id: rs2031066365

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63506301T>G , CM000679.2:g.63506301T>G GRCh38
NC_000017.10:g.61583662T>G , CM000679.1:g.61583662T>G GRCh37
NC_000017.9:g.58937394T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1970-755T>G ENSP00000464149.1:n.1970-755T>G