NOTICE - API Response Change: Users of the API please note that clingenPreferredTitle
is now communityStandardTitle
Genomic Alleles
HGVS |
Genome Assembly |
NC_000007.14:g.32404750T>A , CM000669.2:g.32404750T>A
|
GRCh38
|
NC_000007.13:g.32444362T>A , CM000669.1:g.32444362T>A
|
GRCh37
|
NC_000007.12:g.32410887T>A
|
NCBI36
|
NG_051183.1:g.28475A>T
|
|
Transcript Alleles
HGVS |
Amino-acid change |
ENST00000672256.1:n.310+23072A>T
|
ENSP00000499831.1:p.=
|
|
NM_001322059.1:c.310+23072A>T
|
NP_001308988.1:p.=
|
|
NM_001322059.2:c.310+23072A>T
|
NP_001308988.1:p.=
|
|