Canonical Allele Identifier: CA337623946
Gene:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8634195A>G , CM000686.2:g.8634195A>G GRCh38
NC_000024.9:g.8502236A>G , CM000686.1:g.8502236A>G GRCh37
NC_000024.8:g.8562236A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624593.1:c.-17-1124T>C ENSP00000485106.1:n.-17-1124T>C