Canonical Allele Identifier: CA228572272
Gene:

Linked Data

dbSNP Id: rs756215479
gnomAD v2: 11-112037482-T-C
gnomAD v3: 11-112166759-T-C
gnomAD v4: 11-112166759-T-C
MyVariant Identifiers: chr11:g.112037482T>C (hg19) chr11:g.112166759T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166759T>C , CM000673.2:g.112166759T>C GRCh38
NC_000011.9:g.112037482T>C , CM000673.1:g.112037482T>C GRCh37
NC_000011.8:g.111542692T>C NCBI36
NG_028143.1:g.2359A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3660T>C
ENST00000531744.5:c.315-3660T>C ENSP00000456957.1:n.315-3660T>C
ENST00000532699.1:c.315-3660T>C ENSP00000456434.1:n.315-3660T>C
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