Canonical Allele Identifier: CA101482575
Gene:

Linked Data

dbSNP Id: rs1014651553
gnomAD v3: 4-89598010-C-T
gnomAD v4: 4-89598010-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89598010C>T , CM000666.2:g.89598010C>T GRCh38
NC_000004.11:g.90519161C>T , CM000666.1:g.90519161C>T GRCh37
NC_000004.10:g.90738184C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+10070C>T
XR_938987.1:n.433-143C>T
XR_938988.1:n.299-143C>T
XR_938990.1:n.298+10070C>T
XR_938991.1:n.298+10070C>T
XR_938992.1:n.298+10070C>T
XR_938994.1:n.643+10070C>T
XR_938995.1:n.477+10070C>T
XR_938996.1:n.298+10070C>T
XR_938997.1:n.298+10070C>T
XR_938986.2:n.323+10070C>T
XR_938987.2:n.493-143C>T