HGVS | Genome Assembly |
---|---|
NC_000005.10:g.178995010A>T , CM000667.2:g.178995010A>T | GRCh38 |
NC_000005.9:g.178422011A>T , CM000667.1:g.178422011A>T | GRCh37 |
NC_000005.8:g.178354617A>T | NCBI36 |
NG_008105.1:g.5114T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000517717.3:c.-16-50T>A MANE Select | ENSP00000430767.1:n.-16-50T>A | |
ENST00000650031.1:c.-16-50T>A | ENSP00000497110.1:n.-16-50T>A | |
ENST00000231188.9:c.-66T>A | ENSP00000231188.5:n.-66T>A | |
ENST00000517717.1:c.-16-50T>A | ENSP00000430767.1:n.-16-50T>A | |
NM_000843.3:c.-66T>A | NP_000834.2:n.-66T>A | |
NM_000843.4:c.-16-50T>A MANE Select | NP_000834.2:n.-16-50T>A |