HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150992805C>T , CM000669.2:g.150992805C>T | GRCh38 |
NC_000007.13:g.150689893C>T , CM000669.1:g.150689893C>T | GRCh37 |
NC_000007.12:g.150320826C>T | NCBI36 |
NG_011992.1:g.6747C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.-51-948C>T MANE Select | ENSP00000297494.3:n.-51-948C>T | |
ENST00000297494.7:c.-51-948C>T | ENSP00000297494.3:n.-51-948C>T | |
ENST00000461406.5:c.-149+1505C>T | ENSP00000417143.1:n.-149+1505C>T | |
NM_000603.4:c.-51-948C>T | NP_000594.2:n.-51-948C>T | |
NM_000603.5:c.-51-948C>T MANE Select | NP_000594.2:n.-51-948C>T |