HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992884T>A , CM000667.2:g.177992884T>A | GRCh38 |
NC_000005.9:g.177419885T>A , CM000667.1:g.177419885T>A | GRCh37 |
NC_000005.8:g.177352491T>A | NCBI36 |
NG_015889.1:g.8359A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.506A>T MANE Select | ENSP00000311290.2:p.His169Leu | |
NM_006261.4:c.506A>T | NP_006252.3:p.His169Leu | |
NM_006261.5:c.506A>T MANE Select | NP_006252.4:p.His169Leu |