HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41018242T>A , CM000681.2:g.41018242T>A | GRCh38 |
NC_000019.9:g.41524147T>A , CM000681.1:g.41524147T>A | GRCh37 |
NC_000019.8:g.46215987T>A | NCBI36 |
NG_007929.1:g.31944T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000324071.10:c.*1415T>A MANE Select | ENSP00000324648.2:n.*1415T>A | |
ENST00000324071.8:c.*1415T>A | ENSP00000324648.2:n.*1415T>A | |
NM_000767.4:c.*1415T>A | NP_000758.1:n.*1415T>A | |
XM_011526548.1:c.*1415T>A | XP_011524850.1:n.*1415T>A | |
XM_011526549.1:c.*1415T>A | XP_011524851.1:n.*1415T>A | |
XM_011526550.1:c.*1415T>A | XP_011524852.1:n.*1415T>A | |
NM_000767.5:c.*1415T>A MANE Select | NP_000758.1:n.*1415T>A |