Canonical Allele Identifier: CA799753642
Gene:

Linked Data

dbSNP Id: rs1378758511
gnomAD v3: 4-89656004-C-T
gnomAD v4: 4-89656004-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89656004C>T , CM000666.2:g.89656004C>T GRCh38
NC_000004.11:g.90577155C>T , CM000666.1:g.90577155C>T GRCh37
NC_000004.10:g.90796178C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+28087C>T
XR_938987.1:n.688+28087C>T
XR_938988.1:n.554+28087C>T
XR_938990.1:n.299-35281C>T
XR_938991.1:n.434+28087C>T
XR_938994.1:n.779+28087C>T
XR_938995.1:n.613+28087C>T
XR_938986.2:n.459+28087C>T
XR_938987.2:n.748+28087C>T