HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81354533C= , CM000678.2:g.81354533C= | GRCh38 |
NC_000016.9:g.81388138C= , CM000678.1:g.81388138C= | GRCh37 |
NC_000016.8:g.79945639C= | NCBI36 |
NG_009007.1:g.44568C= , LRG_242:g.44568C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*119C= | ENSP00000498114.1:n.*119C= | |
ENST00000648994.2:c.411C= MANE Select | ENSP00000497351.1:p.Ile137= | |
ENST00000650388.1:c.168-2252C= | ENSP00000498081.1:n.168-2252C= | |
ENST00000674788.1:n.536C= | ||
ENST00000568107.2:c.411C= | ENSP00000476795.1:p.Ile137= | |
NM_022041.3:c.411C= , LRG_242t1:c.411C= | NP_071324.1:p.Ile137= | |
XM_017023734.1:c.-229C= | XP_016879223.1:n.-229C= | |
NM_001377486.1:c.-229C= | NP_001364415.1:n.-229C= | |
NM_022041.4:c.411C= MANE Select | NP_071324.1:p.Ile137= |