Canonical Allele Identifier: CA601753816
Gene:

Linked Data

dbSNP Id: rs1273625385

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164739T>C , CM000673.2:g.112164739T>C GRCh38
NC_000011.9:g.112035462T>C , CM000673.1:g.112035462T>C GRCh37
NC_000011.8:g.111540672T>C NCBI36
NG_028143.1:g.4379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5680T>C
ENST00000531744.5:c.315-5680T>C ENSP00000456957.1:n.315-5680T>C
ENST00000532699.1:c.315-5680T>C ENSP00000456434.1:n.315-5680T>C