NOTICE - API Response Change: Users of the API please note that clingenPreferredTitle
is now communityStandardTitle
Genomic Alleles
HGVS |
Genome Assembly |
NC_000023.11:g.153743258G>A , CM000685.2:g.153743258G>A
|
GRCh38
|
NC_000023.10:g.153008712G>A , CM000685.1:g.153008712G>A
|
GRCh37
|
NC_000023.9:g.152661906G>A
|
NCBI36
|
NG_009022.2:g.23391G>A
|
|
Transcript Alleles
HGVS |
Amino-acid change |
ENST00000218104.6:c.1903G>A
MANE Select
|
ENSP00000218104.3:p.Val635Met
|
|
ENST00000218104.5:c.1903G>A
|
ENSP00000218104.3:p.Val635Met
|
|
NM_000033.3:c.1903G>A
|
NP_000024.2:p.Val635Met
|
|
XR_938507.1:n.2375G>A
|
|
|
XR_938507.2:n.2375G>A
|
|
|
NM_000033.4:c.1903G>A
MANE Select
|
NP_000024.2:p.Val635Met
|
|