Canonical Allele Identifier: CA1482797527
Gene:

Linked Data

dbSNP Id: rs1724780344
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542546A>G , CM000666.2:g.105542546A>G GRCh38
NC_000004.11:g.106463703A>G , CM000666.1:g.106463703A>G GRCh37
NC_000004.10:g.106683152A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.459T>C
XR_939039.1:n.619T>C
XR_939040.1:n.296-1070T>C
XR_001741410.1:n.474T>C
XR_001741411.1:n.950T>C
XR_001741412.1:n.449+25T>C
XR_001741413.1:n.474T>C
XR_001741414.1:n.449+25T>C
XR_939038.2:n.474T>C
XR_939040.2:n.311-1070T>C
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