Canonical Allele Identifier: CA2269950696
Gene:

Linked Data

dbSNP Id: rs2030906917

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498398G>A , CM000679.2:g.63498398G>A GRCh38
NC_000017.10:g.61575759G>A , CM000679.1:g.61575759G>A GRCh37
NC_000017.9:g.58929491G>A NCBI36
NG_011648.1:g.26326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1413G>A ENSP00000464149.1:n.1969+1413G>A