NOTICE - API Response Change: Users of the API please note that clingenPreferredTitle
is now communityStandardTitle
Linked Data
ClinVar Variation Id:
586
Genomic Alleles
HGVS |
Genome Assembly |
NC_000012.12:g.102917130T>C , CM000674.2:g.102917130T>C
|
GRCh38
|
NC_000012.11:g.103310908T>C , CM000674.1:g.103310908T>C
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GRCh37
|
NC_000012.10:g.101835038T>C
|
NCBI36
|
NG_008690.1:g.5473A>G
|
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NG_008690.2:g.46281A>G
|
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Transcript Alleles
HGVS |
Amino-acid change |
ENST00000553106.6:c.1A>G
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ENST00000307000.7:c.-147A>G
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ENSP00000303500.2:p.=
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ENST00000546844.1:c.1A>G
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ENST00000547319.1:n.312A>G
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ENST00000549111.5:n.97A>G
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ENST00000551337.5:c.1A>G
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ENST00000551988.5:n.90A>G
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ENST00000553106.5:c.1A>G
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ENST00000635500.1:n.29-4232A>G
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NM_000277.1:c.1A>G
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XM_011538422.1:c.1A>G
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NM_000277.2:c.1A>G
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NM_001354304.1:c.1A>G
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XM_017019370.2:c.1A>G
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NM_000277.3:c.1A>G
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NM_001354304.2:c.1A>G
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