Canonical Allele Identifier: CA172279508
Gene:

Linked Data

dbSNP Id: rs949939938
gnomAD v3: 8-9400166-G-T
gnomAD v4: 8-9400166-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9400166G>T , CM000670.2:g.9400166G>T GRCh38
NC_000008.10:g.9257676G>T , CM000670.1:g.9257676G>T GRCh37
NC_000008.9:g.9295086G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948936.1:n.185+3779C>A
XR_948940.1:n.96-3697G>T
XR_948941.1:n.96-13483G>T
XR_002956685.1:n.99-3697G>T
XR_948940.2:n.99-3697G>T
XR_948941.2:n.99-13483G>T