Canonical Allele Identifier: CA1035508628
Gene:

Linked Data

dbSNP Id: rs1678096949
gnomAD v3: 2-118086915-C-T
gnomAD v4: 2-118086915-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118086915C>T , CM000664.2:g.118086915C>T GRCh38
NC_000002.11:g.118844491C>T , CM000664.1:g.118844491C>T GRCh37
NC_000002.10:g.118560961C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011512305.1:c.696+1145G>A XP_011510607.1:n.696+1145G>A
XR_001739662.2:n.138+1336G>A
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