Canonical Allele Identifier: CA948824365
Gene:

Linked Data

dbSNP Id: rs1869798926
gnomAD v3: 12-68248071-T-C
gnomAD v4: 12-68248071-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68248071T>C , CM000674.2:g.68248071T>C GRCh38
NC_000012.11:g.68641851T>C , CM000674.1:g.68641851T>C GRCh37
NC_000012.10:g.66928118T>C NCBI36
NG_060763.1:g.10534A>G

Transcript Alleles

HGVS Amino-acid Change
XR_945055.1:n.265-16587T>C
XR_002957418.1:n.281-16587T>C
Search 100 bp 5'
Search 100 bp 3'