Canonical Allele Identifier: CA521021344
Gene:

Linked Data

dbSNP Id: rs1405539276
gnomAD v2: 1-752693-T-G
MyVariant Identifiers: chr1:g.752693T>G (hg19) chr1:g.752693_752694delinsGC (hg19) chr1:g.817313T>G (hg38) chr1:g.817313_817314delinsGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817313T>G , CM000663.2:g.817313T>G GRCh38
NC_000001.10:g.752693T>G , CM000663.1:g.752693T>G GRCh37
NC_000001.9:g.742556T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10357A>C
ENST00000635509.2:n.100+10357A>C
ENST00000447500.4:n.340+60A>C
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