HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992913T>A , CM000667.2:g.177992913T>A | GRCh38 |
NC_000005.9:g.177419914T>A , CM000667.1:g.177419914T>A | GRCh37 |
NC_000005.8:g.177352520T>A | NCBI36 |
NG_015889.1:g.8330A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.477A>T MANE Select | ENSP00000311290.2:p.Ala159= | |
NM_006261.4:c.477A>T | NP_006252.3:p.Ala159= | |
NM_006261.5:c.477A>T MANE Select | NP_006252.4:p.Ala159= |