Canonical Allele Identifier: CA101482572
Gene:

Linked Data

dbSNP Id: rs148183427
gnomAD v2: 4-90519126-T-C
gnomAD v3: 4-89597975-T-C
gnomAD v4: 4-89597975-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89597975T>C , CM000666.2:g.89597975T>C GRCh38
NC_000004.11:g.90519126T>C , CM000666.1:g.90519126T>C GRCh37
NC_000004.10:g.90738149T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+10035T>C
XR_938987.1:n.433-178T>C
XR_938988.1:n.299-178T>C
XR_938990.1:n.298+10035T>C
XR_938991.1:n.298+10035T>C
XR_938992.1:n.298+10035T>C
XR_938994.1:n.643+10035T>C
XR_938995.1:n.477+10035T>C
XR_938996.1:n.298+10035T>C
XR_938997.1:n.298+10035T>C
XR_938986.2:n.323+10035T>C
XR_938987.2:n.493-178T>C