HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68444611C>A , CM000663.2:g.68444611C>A | GRCh38 |
NC_000001.10:g.68910294C>A , CM000663.1:g.68910294C>A | GRCh37 |
NC_000001.9:g.68682882C>A | NCBI36 |
NG_008472.1:g.10349G>T | |
NG_008472.2:g.10349G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.415G>T MANE Select | ENSP00000262340.5:p.Val139Leu | |
ENST00000262340.5:c.415G>T | ENSP00000262340.5:p.Val139Leu | |
NM_000329.2:c.415G>T | NP_000320.1:p.Val139Leu | |
XM_017002027.1:c.139G>T | XP_016857516.1:p.Val47Leu | |
NM_000329.3:c.415G>T MANE Select | NP_000320.1:p.Val139Leu |