Canonical Allele Identifier: CA2598032947
Gene:

Linked Data

dbSNP Id: rs1367928429
gnomAD v3: 4-54228409-G-C
gnomAD v4: 4-54228409-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228409G>C , CM000666.2:g.54228409G>C GRCh38
NC_000004.11:g.55094576G>C , CM000666.1:g.55094576G>C GRCh37
NC_000004.10:g.54789333G>C NCBI36
NG_009250.1:g.4313G>C , LRG_309:g.4313G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46516G>C ENSP00000423325.1:n.1018-46516G>C
Search 100 bp 5'
Search 100 bp 3'