Canonical Allele Identifier: CA1500737920
Gene:

Linked Data

dbSNP Id: rs1733828922

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559621A>G , CM000666.2:g.144559621A>G GRCh38
NC_000004.11:g.145480773A>G , CM000666.1:g.145480773A>G GRCh37
NC_000004.10:g.145700223A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143643T>C ENSP00000497507.1:n.328-143643T>C
XR_939272.1:n.178+2363T>C
XR_939273.1:n.178+2363T>C
XR_939272.2:n.522+2363T>C
XR_939273.2:n.522+2363T>C