Canonical Allele Identifier: CA1751418986
Gene:

Linked Data

dbSNP Id: rs1463926485
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807221C>T , CM000669.2:g.148807221C>T GRCh38
NC_000007.13:g.148504313C>T , CM000669.1:g.148504313C>T GRCh37
NC_000007.12:g.148135246C>T NCBI36
NG_032043.1:g.82129G>A , LRG_531:g.82129G>A

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2136C>T
XR_928102.1:n.722+2136C>T
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