NOTICE - API Response Change: Users of the API please note that clingenPreferredTitle is now communityStandardTitle
Genomic Alleles
| HGVS |
Genome Assembly |
|
NC_000008.11:g.19957588T>A , CM000670.2:g.19957588T>A
|
GRCh38
|
|
NC_000008.10:g.19815099T>A , CM000670.1:g.19815099T>A
|
GRCh37
|
|
NC_000008.9:g.19859379T>A
|
NCBI36
|
|
NG_008855.1:g.23518T>A
|
|
|
NG_008855.2:g.60872T>A
|
|
Transcript Alleles
| HGVS |
Amino-acid change |
|
ENST00000650287.1:c.1018+1505T>A
MANE Select
|
ENSP00000497642.1:p.=
|
|
|
ENST00000650478.1:n.79+1505T>A
|
ENSP00000497560.1:p.=
|
|
|
ENST00000311322.8:c.1018+1505T>A
|
ENSP00000309757.6:p.=
|
|
|
NM_000237.2:c.1018+1505T>A
|
NP_000228.1:p.=
|
|
|
NM_000237.3:c.1018+1505T>A
MANE Select
|
NP_000228.1:p.=
|
|
