HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68429848T>A , CM000663.2:g.68429848T>A | GRCh38 |
NC_000001.10:g.68895531T>A , CM000663.1:g.68895531T>A | GRCh37 |
NC_000001.9:g.68668119T>A | NCBI36 |
NG_008472.1:g.25112A>T | |
NG_008472.2:g.25112A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1530A>T MANE Select | ENSP00000262340.5:p.Leu510Phe | |
ENST00000262340.5:c.1530A>T | ENSP00000262340.5:p.Leu510Phe | |
NM_000329.2:c.1530A>T | NP_000320.1:p.Leu510Phe | |
XM_017002027.1:c.1254A>T | XP_016857516.1:p.Leu418Phe | |
NM_000329.3:c.1530A>T MANE Select | NP_000320.1:p.Leu510Phe |