Canonical Allele Identifier: CA1500737897
Gene:

Linked Data

dbSNP Id: rs1733828632

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559591T>C , CM000666.2:g.144559591T>C GRCh38
NC_000004.11:g.145480743T>C , CM000666.1:g.145480743T>C GRCh37
NC_000004.10:g.145700193T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143613A>G ENSP00000497507.1:n.328-143613A>G
XR_939272.1:n.178+2393A>G
XR_939273.1:n.178+2393A>G
XR_939272.2:n.522+2393A>G
XR_939273.2:n.522+2393A>G