Canonical Allele Identifier: CA2216888468
Gene:

Linked Data

dbSNP Id: rs2057282694
gnomAD v4: 16-31090813-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090813C>G , CM000678.2:g.31090813C>G GRCh38
NC_000016.9:g.31102134C>G , CM000678.1:g.31102134C>G GRCh37
NC_000016.8:g.31009635C>G NCBI36
NG_011564.1:g.9143G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2499G>C ENSP00000431371.1:n.283+2499G>C
ENST00000532364.1:c.173+3744G>C ENSP00000460316.1:n.173+3744G>C
ENST00000533518.5:c.407+279G>C
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