Canonical Allele Identifier: CA1035662615
Gene:

Linked Data

dbSNP Id: rs1690910449
gnomAD v3: 2-120331907-C-T
gnomAD v4: 2-120331907-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120331907C>T , CM000664.2:g.120331907C>T GRCh38
NC_000002.11:g.121089483C>T , CM000664.1:g.121089483C>T GRCh37
NC_000002.10:g.120805953C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512307.1:c.141+3101C>T XP_011510609.1:n.141+3101C>T
Search 100 bp 5'
Search 100 bp 3'