Canonical Allele Identifier: CA933338521
Gene:

Linked Data

dbSNP Id: rs2097478727
gnomAD v3: 10-122458314-G-T
gnomAD v4: 10-122458314-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122458314G>T , CM000672.2:g.122458314G>T GRCh38
NC_000010.10:g.124217830G>T , CM000672.1:g.124217830G>T GRCh37
NC_000010.9:g.124207820G>T NCBI36
NG_011554.1:g.1790G>T
NG_011725.1:g.8652G>T

Transcript Alleles

HGVS Amino-acid Change
XR_946382.1:n.1827+181C>A
XR_946383.1:n.1827+181C>A
XR_946384.1:n.1576+181C>A
XR_946385.1:n.1827+181C>A
XR_946382.2:n.1855+181C>A
XR_946383.2:n.1855+181C>A
XR_946384.2:n.1580+181C>A
XR_946385.2:n.1855+181C>A
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