HGVS | Genome Assembly |
---|---|
NC_000002.12:g.84425586A>T , CM000664.2:g.84425586A>T | GRCh38 |
NC_000002.11:g.84652710A>T , CM000664.1:g.84652710A>T | GRCh37 |
NC_000002.10:g.84506221A>T | NCBI36 |
NG_016755.1:g.38877T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393868.7:c.843T>A MANE Select | ENSP00000377446.2:p.Pro281= | |
ENST00000651342.1:c.*283T>A | ENSP00000498471.1:n.*283T>A | |
ENST00000393868.6:c.843T>A | ENSP00000377446.2:p.Pro281= | |
ENST00000484365.1:n.1351T>A | ||
ENST00000487809.1:n.590T>A | ||
ENST00000491123.5:n.689T>A | ||
NM_003849.3:c.843T>A | NP_003840.2:p.Pro281= | |
NM_003849.4:c.843T>A MANE Select | NP_003840.2:p.Pro281= |