Canonical Allele Identifier: CA1308208122
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.173348166G>C , CM000664.2:g.173348166G>C GRCh38
NC_000002.11:g.174212894G>C , CM000664.1:g.174212894G>C GRCh37
NC_000002.10:g.173921140G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437243.1:n.42+8001C>G