Canonical Allele Identifier: CA15082067
Gene:

Linked Data

dbSNP Id: rs1146509
gnomAD v2: 1-95029581-G-T
gnomAD v3: 1-94564025-G-T
gnomAD v4: 1-94564025-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94564025G>T , CM000663.2:g.94564025G>T GRCh38
NC_000001.10:g.95029581G>T , CM000663.1:g.95029581G>T GRCh37
NC_000001.9:g.94802169G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001738161.1:n.461+412G>T