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Canonical Allele Identifier:
CA200765434
Gene: ABO
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133256091T>C
GRCh38
chr9:g.133256091_133256097delinsCGTCCAC
GRCh37
chr9:g.136131478T>C
GRCh37
chr9:g.136131478_136131484delinsCGTCCAC
Linked Data - Sequence & Population
gnomAD v2:
9:136131478 T / C
gnomAD v3:
9:133256091 T / C
gnomAD v4:
chr9-133256091-T-C
Joint Max Group AF
8e-7 (NFE)
Exomes Max Group AF
7.3e-7 (NFE)
Linked Data - NCBI & NCI
dbSNP:
964984014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256091T>C , CM000671.2:g.133256091T>C
GRCh38
NC_000009.11:g.136131478T>C , CM000671.1:g.136131478T>C
GRCh37
NC_000009.10:g.135121299T>C
NCBI36
NG_006669.1:g.21577A>G
NG_006669.2:g.24125A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.669A>G
ENST00000647353.1:n.54-4939A>G
ENST00000679909.1:c.28+19071A>G
ENSP00000506089.1:n.28+19071A>G
ENST00000453660.3:n.651A>G
ENST00000538324.2:c.637A>G
ENSP00000483018.1:p.Met213Val
ENST00000611156.4:c.637A>G
ENSP00000483265.1:p.Met213Val
NM_020469.2:c.640A>G
NP_065202.2:p.Met214Val
NM_020469.3:c.640A>G
NP_065202.2:p.Met214Val
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