NOTICE - API Response Change: Users of the API please note that clingenPreferredTitle
is now communityStandardTitle
Genomic Alleles
HGVS |
Genome Assembly |
NC_000024.10:g.19466449C>A , CM000686.2:g.19466449C>A
|
GRCh38
|
NC_000024.9:g.21628335C>A , CM000686.1:g.21628335C>A
|
GRCh37
|
NC_000024.8:g.20087723C>A
|
NCBI36
|
Transcript Alleles
HGVS |
Amino-acid change |
ENST00000650676.1:n.1660+7G>T
|
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ENST00000400605.5:n.1654+7G>T
|
|
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ENST00000441139.5:n.1671+7G>T
|
|
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ENST00000513194.1:n.4574G>T
|
|
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NR_002923.2:n.1671+7G>T
|
|
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NR_033732.1:n.1671+7G>T
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