HGVS | Genome Assembly |
---|---|
NC_000007.14:g.135644954T>A , CM000669.2:g.135644954T>A | GRCh38 |
NC_000007.13:g.135329702T>A , CM000669.1:g.135329702T>A | GRCh37 |
NC_000007.12:g.134980242T>A | NCBI36 |
NG_051184.1:g.92041T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285968.11:c.5619T>A MANE Select | ENSP00000285968.6:p.Val1873= | |
ENST00000285968.10:c.5619T>A | ENSP00000285968.6:p.Val1873= | |
ENST00000461255.5:n.826T>A | ||
ENST00000477620.5:c.1381T>A | ||
ENST00000490439.1:c.56T>A | ||
ENST00000607647.5:n.3897T>A | ||
NM_015135.2:c.5619T>A | NP_055950.1:p.Val1873= | |
XM_005250235.2:c.4545T>A | XP_005250292.1:p.Val1515= | |
NM_001329434.1:c.4545T>A | NP_001316363.1:p.Val1515= | |
NM_015135.3:c.5619T>A MANE Select | NP_055950.2:p.Val1873= | |
NM_001329434.2:c.4545T>A | NP_001316363.2:p.Val1515= |