Canonical Allele Identifier: CA14643092
Gene:

Linked Data

dbSNP Id: rs12459249
gnomAD v2: 19-41339896-T-C
gnomAD v3: 19-40833991-T-C
gnomAD v4: 19-40833991-T-C
MyVariant Identifiers: chr19:g.41339896T>C (hg19) chr19:g.40833991T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40833991T>C , CM000681.2:g.40833991T>C GRCh38
NC_000019.9:g.41339896T>C , CM000681.1:g.41339896T>C GRCh37
NC_000019.8:g.46031736T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000601627.1:c.119+32576T>C
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