HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354492T= , CM000678.2:g.81354492T= | GRCh38 |
NC_000016.9:g.81388097T= , CM000678.1:g.81388097T= | GRCh37 |
NC_000016.8:g.79945598T= | NCBI36 |
NG_009007.1:g.44527T= , LRG_242:g.44527T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*78T= | ENSP00000498114.1:n.*78T= | |
ENST00000648994.2:c.370T= MANE Select | ENSP00000497351.1:p.Phe124= | |
ENST00000650388.1:c.168-2293T= | ENSP00000498081.1:n.168-2293T= | |
ENST00000674788.1:n.495T= | ||
ENST00000568107.2:c.370T= | ENSP00000476795.1:p.Phe124= | |
NM_022041.3:c.370T= , LRG_242t1:c.370T= | NP_071324.1:p.Phe124= | |
XM_017023734.1:c.-270T= | XP_016879223.1:n.-270T= | |
NM_001377486.1:c.-270T= | NP_001364415.1:n.-270T= | |
NM_022041.4:c.370T= MANE Select | NP_071324.1:p.Phe124= |