HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68431303C>A , CM000663.2:g.68431303C>A | GRCh38 |
NC_000001.10:g.68896986C>A , CM000663.1:g.68896986C>A | GRCh37 |
NC_000001.9:g.68669574C>A | NCBI36 |
NG_008472.1:g.23657G>T | |
NG_008472.2:g.23657G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1317G>T MANE Select | ENSP00000262340.5:p.Leu439Phe | |
ENST00000262340.5:c.1317G>T | ENSP00000262340.5:p.Leu439Phe | |
NM_000329.2:c.1317G>T | NP_000320.1:p.Leu439Phe | |
XM_017002027.1:c.1041G>T | XP_016857516.1:p.Leu347Phe | |
NM_000329.3:c.1317G>T MANE Select | NP_000320.1:p.Leu439Phe |