Canonical Allele Identifier: CA2269950702
Gene:

Linked Data

dbSNP Id: rs2030907315
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498406C>T , CM000679.2:g.63498406C>T GRCh38
NC_000017.10:g.61575767C>T , CM000679.1:g.61575767C>T GRCh37
NC_000017.9:g.58929499C>T NCBI36
NG_011648.1:g.26334C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1421C>T ENSP00000464149.1:n.1969+1421C>T
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