Canonical Allele Identifier: CA11309486
Gene:

Linked Data

dbSNP Id: rs1137
gnomAD v2: 2-74939176-T-C
gnomAD v3: 2-74712049-T-C
gnomAD v4: 2-74712049-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74712049T>C , CM000664.2:g.74712049T>C GRCh38
NC_000002.11:g.74939176T>C , CM000664.1:g.74939176T>C GRCh37
NC_000002.10:g.74792684T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_427047.4:n.362T>C