NOTICE - API Response Change: Users of the API please note that clingenPreferredTitle
is now communityStandardTitle
Genomic Alleles
HGVS |
Genome Assembly |
NC_000017.11:g.40561644T>C , CM000679.2:g.40561644T>C
|
GRCh38
|
NC_000017.10:g.38717896T>C , CM000679.1:g.38717896T>C
|
GRCh37
|
NC_000017.9:g.35971422T>C
|
NCBI36
|
Transcript Alleles
HGVS |
Amino-acid change |
ENST00000246657.2:c.11-2702A>G
MANE Select
|
ENSP00000246657.2:p.=
|
|
ENST00000578085.1:c.-130+3756A>G
|
ENSP00000463075.1:p.=
|
|
NM_001301714.1:c.-130+3756A>G
|
NP_001288643.1:p.=
|
|
NM_001838.3:c.11-2702A>G
|
NP_001829.1:p.=
|
|
NM_001838.4:c.11-2702A>G
MANE Select
|
NP_001829.1:p.=
|
|
NM_001301714.2:c.-130+3756A>G
|
NP_001288643.1:p.=
|
|