HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354487G= , CM000678.2:g.81354487G= | GRCh38 |
NC_000016.9:g.81388092G= , CM000678.1:g.81388092G= | GRCh37 |
NC_000016.8:g.79945593G= | NCBI36 |
NG_009007.1:g.44522G= , LRG_242:g.44522G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*73G= | ENSP00000498114.1:n.*73G= | |
ENST00000648994.2:c.365G= MANE Select | ENSP00000497351.1:p.Cys122= | |
ENST00000650388.1:c.168-2298G= | ENSP00000498081.1:n.168-2298G= | |
ENST00000674788.1:n.490G= | ||
ENST00000568107.2:c.365G= | ENSP00000476795.1:p.Cys122= | |
NM_022041.3:c.365G= , LRG_242t1:c.365G= | NP_071324.1:p.Cys122= | |
XM_017023734.1:c.-275G= | XP_016879223.1:n.-275G= | |
NM_001377486.1:c.-275G= | NP_001364415.1:n.-275G= | |
NM_022041.4:c.365G= MANE Select | NP_071324.1:p.Cys122= |