Canonical Allele Identifier: CA1035662627
Gene:

Linked Data

dbSNP Id: rs1690910510
gnomAD v3: 2-120331917-C-T
gnomAD v4: 2-120331917-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120331917C>T , CM000664.2:g.120331917C>T GRCh38
NC_000002.11:g.121089493C>T , CM000664.1:g.121089493C>T GRCh37
NC_000002.10:g.120805963C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512307.1:c.141+3111C>T XP_011510609.1:n.141+3111C>T
Search 100 bp 5'
Search 100 bp 3'