Canonical Allele Identifier: CA99746703
Gene:

Linked Data

dbSNP Id: rs904493030
gnomAD v2: 4-75170152-G-A
gnomAD v3: 4-74304435-G-A
gnomAD v4: 4-74304435-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74304435G>A , CM000666.2:g.74304435G>A GRCh38
NC_000004.11:g.75170152G>A , CM000666.1:g.75170152G>A GRCh37
NC_000004.10:g.75389016G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938877.1:n.120-25657C>T
XR_938877.2:n.126-25657C>T