Canonical Allele Identifier: CA280619469
Gene:

Linked Data

dbSNP Id: rs961957120
MyVariant Identifiers: chr16:g.31102056C>G (hg19) chr16:g.31090735C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090735C>G , CM000678.2:g.31090735C>G GRCh38
NC_000016.9:g.31102056C>G , CM000678.1:g.31102056C>G GRCh37
NC_000016.8:g.31009557C>G NCBI36
NG_011564.1:g.9221G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2577G>C ENSP00000431371.1:n.283+2577G>C
ENST00000532364.1:c.173+3822G>C ENSP00000460316.1:n.173+3822G>C
ENST00000533518.5:c.407+357G>C
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