Canonical Allele Identifier: CA10846556
Gene:

Linked Data

dbSNP Id: rs11102522
gnomAD v2: 1-113250888-T-C
gnomAD v3: 1-112708266-T-C
gnomAD v4: 1-112708266-T-C
MyVariant Identifiers: chr1:g.113250888T>C (hg19) chr1:g.112708266T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112708266T>C , CM000663.2:g.112708266T>C GRCh38
NC_000001.10:g.113250888T>C , CM000663.1:g.113250888T>C GRCh37
NC_000001.9:g.113052411T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000471038.6:n.428+2194A>G
ENST00000605933.5:c.414+2194A>G
ENST00000606505.5:c.414+2194A>G
ENST00000606954.1:c.350+2194A>G
ENST00000607158.5:n.477+2194A>G
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