Canonical Allele Identifier: CA773975257
Gene:

Linked Data

dbSNP Id: rs1219784888
gnomAD v3: 17-63498404-A-G
gnomAD v4: 17-63498404-A-G
MyVariant Identifiers: chr17:g.61575765A>G (hg19) chr17:g.63498404A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498404A>G , CM000679.2:g.63498404A>G GRCh38
NC_000017.10:g.61575765A>G , CM000679.1:g.61575765A>G GRCh37
NC_000017.9:g.58929497A>G NCBI36
NG_011648.1:g.26332A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1419A>G ENSP00000464149.1:n.1969+1419A>G
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