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Canonical Allele Identifier:
CA375685067
Gene: ABO
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133255928C>A
GRCh37
chr9:g.136131315C>A
Linked Data - Sequence & Population
gnomAD v2:
9:136131315 C / A
gnomAD v4:
chr9-133255928-C-A
Joint Max Group AF
2.8e-7 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Linked Data - NCBI & NCI
dbSNP:
8176747
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255928C>A , CM000671.2:g.133255928C>A
GRCh38
NC_000009.11:g.136131315C>A , CM000671.1:g.136131315C>A
GRCh37
NC_000009.10:g.135121136C>A
NCBI36
NG_006669.1:g.21740G>T
NG_006669.2:g.24288G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.832G>T
ENST00000647353.1:n.54-4776G>T
ENST00000679909.1:c.28+19234G>T
ENSP00000506089.1:n.28+19234G>T
ENST00000453660.3:n.814G>T
ENST00000538324.2:c.800G>T
ENSP00000483018.1:p.Gly267Val
ENST00000611156.4:c.800G>T
ENSP00000483265.1:p.Gly267Val
NM_020469.2:c.803G>T
NP_065202.2:p.Gly268Val
NM_020469.3:c.803G>T
NP_065202.2:p.Gly268Val
Search 100 bp 5'
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