Canonical Allele Identifier: CA788486282
Gene:

Linked Data

dbSNP Id: rs1424545367

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559321A>G , CM000666.2:g.144559321A>G GRCh38
NC_000004.11:g.145480473A>G , CM000666.1:g.145480473A>G GRCh37
NC_000004.10:g.145699923A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143343T>C ENSP00000497507.1:n.328-143343T>C
XR_939272.1:n.178+2663T>C
XR_939273.1:n.178+2663T>C
XR_939272.2:n.522+2663T>C
XR_939273.2:n.522+2663T>C