Canonical Allele Identifier: CA530420135
Gene:

Linked Data

dbSNP Id: rs1487246658
gnomAD v2: 2-1557860-G-A
gnomAD v3: 2-1554088-G-A
gnomAD v4: 2-1554088-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1554088G>A , CM000664.2:g.1554088G>A GRCh38
NC_000002.11:g.1557860G>A , CM000664.1:g.1557860G>A GRCh37
NC_000002.10:g.1536867G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011510447.1:c.-1085G>A XP_011508749.1:n.-1085G>A
XM_011510448.1:c.-1085G>A XP_011508750.1:n.-1085G>A
XR_922720.1:n.85+2410C>T
XM_017005455.1:c.-1085G>A XP_016860944.1:n.-1085G>A
NR_168373.1:n.746-82G>A