Canonical Allele Identifier: CA2346122730
Gene:

Linked Data

dbSNP Id: rs2085111240

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2470885A>T , CM000682.2:g.2470885A>T GRCh38
NC_000020.10:g.2451531A>T , CM000682.1:g.2451531A>T GRCh37
NC_000020.9:g.2399531A>T NCBI36
NG_042057.1:g.4969T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461548.1:c.305-3127T>A ENSP00000456213.1:n.305-3127T>A