Canonical Allele Identifier: CA65561166
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs1344694

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028914T>G , CM000664.2:g.216028914T>G GRCh38
NC_000002.11:g.216893637T>G , CM000664.1:g.216893637T>G GRCh37
NC_000002.10:g.216601882T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3875A>C ENSP00000404470.1:p.=
ENST00000424992.5:c.-68+5048A>C ENSP00000413302.1:p.=
ENST00000439791.5:c.-68+4769A>C ENSP00000411076.1:p.=
ENST00000442122.5:c.*440+10277A>C ENSP00000395512.1:p.=