HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833799A= , CM000686.2:g.12833799A= | GRCh38 |
NC_000024.9:g.14945725A= , CM000686.1:g.14945725A= | GRCh37 |
NC_000024.8:g.13455119A= | NCBI36 |
NG_008311.1:g.137566A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5133A= | ENSP00000498372.1:p.Ile1711= | |
ENST00000338981.7:c.5133A= MANE Select | ENSP00000342812.3:p.Ile1711= | |
ENST00000426564.6:n.5145A= | ||
NM_004654.3:c.5133A= | NP_004645.2:p.Ile1711= | |
XM_011531469.1:c.5133A= | XP_011529771.1:p.Ile1711= | |
XM_011531470.1:c.4899A= | XP_011529772.1:p.Ile1633= | |
XM_017030078.2:c.5148A= | XP_016885567.1:p.Ile1716= | |
NM_004654.4:c.5133A= MANE Select | NP_004645.2:p.Ile1711= |