Canonical Allele Identifier: CA120443656
Gene:

Linked Data

dbSNP Id: rs1012688784
gnomAD v3: 5-66487897-G-C
gnomAD v4: 5-66487897-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.66487897G>C , CM000667.2:g.66487897G>C GRCh38
NC_000005.9:g.65783725G>C , CM000667.1:g.65783725G>C GRCh37
NC_000005.8:g.65819481G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948381.1:n.649-48939G>C