Canonical Allele Identifier: CA759215232
Gene:

Linked Data

dbSNP Id: rs1447264341
gnomAD v3: 2-1554060-C-T
gnomAD v4: 2-1554060-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1554060C>T , CM000664.2:g.1554060C>T GRCh38
NC_000002.11:g.1557832C>T , CM000664.1:g.1557832C>T GRCh37
NC_000002.10:g.1536839C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011510447.1:c.-1113C>T XP_011508749.1:n.-1113C>T
XM_011510448.1:c.-1113C>T XP_011508750.1:n.-1113C>T
XR_922720.1:n.85+2438G>A
XM_017005455.1:c.-1113C>T XP_016860944.1:n.-1113C>T
NR_168373.1:n.746-110C>T