HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354540T>A , CM000678.2:g.81354540T>A | GRCh38 |
NC_000016.9:g.81388145T>A , CM000678.1:g.81388145T>A | GRCh37 |
NC_000016.8:g.79945646T>A | NCBI36 |
NG_009007.1:g.44575T>A , LRG_242:g.44575T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*126T>A | ENSP00000498114.1:n.*126T>A | |
ENST00000648994.2:c.418T>A MANE Select | ENSP00000497351.1:p.Phe140Ile | |
ENST00000650388.1:c.168-2245T>A | ENSP00000498081.1:n.168-2245T>A | |
ENST00000674788.1:n.543T>A | ||
ENST00000568107.2:c.418T>A | ENSP00000476795.1:p.Phe140Ile | |
NM_022041.3:c.418T>A , LRG_242t1:c.418T>A | NP_071324.1:p.Phe140Ile | |
XM_017023734.1:c.-222T>A | XP_016879223.1:n.-222T>A | |
NM_001377486.1:c.-222T>A | NP_001364415.1:n.-222T>A | |
NM_022041.4:c.418T>A MANE Select | NP_071324.1:p.Phe140Ile |