Canonical Allele Identifier: CA552316577
Gene:

Linked Data

dbSNP Id: rs1484362292
gnomAD v2: 4-75170151-C-T
gnomAD v3: 4-74304434-C-T
gnomAD v4: 4-74304434-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74304434C>T , CM000666.2:g.74304434C>T GRCh38
NC_000004.11:g.75170151C>T , CM000666.1:g.75170151C>T GRCh37
NC_000004.10:g.75389015C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938877.1:n.120-25656G>A
XR_938877.2:n.126-25656G>A