Canonical Allele Identifier: CA1500737748
Gene:

Linked Data

dbSNP Id: rs1733825891

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559473T>A , CM000666.2:g.144559473T>A GRCh38
NC_000004.11:g.145480625T>A , CM000666.1:g.145480625T>A GRCh37
NC_000004.10:g.145700075T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143495A>T ENSP00000497507.1:n.328-143495A>T
XR_939272.1:n.178+2511A>T
XR_939273.1:n.178+2511A>T
XR_939272.2:n.522+2511A>T
XR_939273.2:n.522+2511A>T