Canonical Allele Identifier: CA2513516048
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120332168T>C , CM000664.2:g.120332168T>C GRCh38
NC_000002.11:g.121089744T>C , CM000664.1:g.121089744T>C GRCh37
NC_000002.10:g.120806214T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512307.1:c.141+3362T>C XP_011510609.1:n.141+3362T>C