Canonical Allele Identifier: CA214413013
Gene:

Linked Data

dbSNP Id: rs553616256
gnomAD v2: 10-124217794-G-A
gnomAD v3: 10-122458278-G-A
gnomAD v4: 10-122458278-G-A
MyVariant Identifiers: chr10:g.124217794G>A (hg19) chr10:g.122458278G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458278G>A , CM000672.2:g.122458278G>A GRCh38
NC_000010.10:g.124217794G>A , CM000672.1:g.124217794G>A GRCh37
NC_000010.9:g.124207784G>A NCBI36
NG_011554.1:g.1754G>A
NG_011725.1:g.8616G>A

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+217C>T
XR_946383.1:n.1827+217C>T
XR_946384.1:n.1576+217C>T
XR_946385.1:n.1827+217C>T
XR_946382.2:n.1855+217C>T
XR_946383.2:n.1855+217C>T
XR_946384.2:n.1580+217C>T
XR_946385.2:n.1855+217C>T
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