HGVS | Genome Assembly |
---|---|
NC_000017.11:g.50186721T>A , CM000679.2:g.50186721T>A | GRCh38 |
NC_000017.10:g.48264082T>A , CM000679.1:g.48264082T>A | GRCh37 |
NC_000017.9:g.45619081T>A | NCBI36 |
NG_007400.1:g.19919A>T , LRG_1:g.19919A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225964.10:c.3733A>T MANE Select | ENSP00000225964.6:p.Ile1245Phe | |
ENST00000225964.9:c.3733A>T | ENSP00000225964.5:p.Ile1245Phe | |
ENST00000510710.3:n.402A>T | ||
NM_000088.3:c.3733A>T , LRG_1t1:c.3733A>T | NP_000079.2:p.Ile1245Phe | |
XM_005257058.3:c.3463A>T | XP_005257115.2:p.Ile1155Phe | |
XM_005257059.3:c.2815A>T | XP_005257116.2:p.Ile939Phe | |
XM_011524341.1:c.3535A>T | XP_011522643.1:p.Ile1179Phe | |
XM_005257058.4:c.3463A>T | XP_005257115.2:p.Ile1155Phe | |
XM_005257059.4:c.2815A>T | XP_005257116.2:p.Ile939Phe | |
NM_000088.4:c.3733A>T MANE Select | NP_000079.2:p.Ile1245Phe |