Canonical Allele Identifier: CA1282455948
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118078449C>T , CM000664.2:g.118078449C>T GRCh38
NC_000002.11:g.118836025C>T , CM000664.1:g.118836025C>T GRCh37
NC_000002.10:g.118552495C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512305.1:c.697-917G>A XP_011510607.1:n.697-917G>A
XR_001739662.2:n.138+9802G>A