Canonical Allele Identifier: CA857045762
Gene:

Linked Data

dbSNP Id: rs1202205966
gnomAD v3: 8-9400232-T-C
gnomAD v4: 8-9400232-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9400232T>C , CM000670.2:g.9400232T>C GRCh38
NC_000008.10:g.9257742T>C , CM000670.1:g.9257742T>C GRCh37
NC_000008.9:g.9295152T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948936.1:n.185+3713A>G
XR_948940.1:n.96-3631T>C
XR_948941.1:n.96-13417T>C
XR_002956685.1:n.99-3631T>C
XR_948940.2:n.99-3631T>C
XR_948941.2:n.99-13417T>C