Canonical Allele Identifier: CA773975242
Gene:

Linked Data

dbSNP Id: rs1426850042
gnomAD v3: 17-63498388-T-C
gnomAD v4: 17-63498388-T-C
MyVariant Identifiers: chr17:g.61575749T>C (hg19) chr17:g.63498388T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498388T>C , CM000679.2:g.63498388T>C GRCh38
NC_000017.10:g.61575749T>C , CM000679.1:g.61575749T>C GRCh37
NC_000017.9:g.58929481T>C NCBI36
NG_011648.1:g.26316T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1403T>C ENSP00000464149.1:n.1969+1403T>C
Search 100 bp 5'
Search 100 bp 3'