Canonical Allele Identifier: CA985400188
Gene:

Linked Data

dbSNP Id: rs2030906380
gnomAD v3: 17-63498387-T-C
gnomAD v4: 17-63498387-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63498387T>C , CM000679.2:g.63498387T>C GRCh38
NC_000017.10:g.61575748T>C , CM000679.1:g.61575748T>C GRCh37
NC_000017.9:g.58929480T>C NCBI36
NG_011648.1:g.26315T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000577647.2:c.1969+1402T>C ENSP00000464149.1:n.1969+1402T>C
Search 100 bp 5'
Search 100 bp 3'