HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161219153A>T , CM000663.2:g.161219153A>T | GRCh38 |
NC_000001.10:g.161188943A>T , CM000663.1:g.161188943A>T | GRCh37 |
NC_000001.9:g.159455567A>T | NCBI36 |
NG_029043.1:g.8857A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000289902.2:c.*210A>T MANE Select | ENSP00000289902.1:n.*210A>T | |
ENST00000289902.1:c.*210A>T | ENSP00000289902.1:n.*210A>T | |
ENST00000367992.7:c.198+430A>T | ENSP00000356971.3:n.198+430A>T | |
ENST00000490414.1:n.467A>T | ||
NM_004106.1:c.*210A>T | NP_004097.1:n.*210A>T | |
NM_004106.2:c.*210A>T MANE Select | NP_004097.1:n.*210A>T |