HGVS | Genome Assembly |
---|---|
NC_000012.12:g.102912810T>A , CM000674.2:g.102912810T>A | GRCh38 |
NC_000012.11:g.103306588T>A , CM000674.1:g.103306588T>A | GRCh37 |
NC_000012.10:g.101830718T>A | NCBI36 |
NG_008690.1:g.9793A>T | |
NG_008690.2:g.50601A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553106.6:c.149A>T MANE Select | ENSP00000448059.1:p.Lys50Ile | |
ENST00000307000.7:c.134A>T | ENSP00000303500.2:p.Lys45Ile | |
ENST00000546844.1:c.149A>T | ENSP00000446658.1:p.Lys50Ile | |
ENST00000548677.2:n.236A>T | ||
ENST00000548928.1:n.71A>T | ||
ENST00000549111.5:n.245A>T | ||
ENST00000550978.6:c.133A>T | ||
ENST00000551337.5:c.149A>T | ENSP00000447620.1:p.Lys50Ile | |
ENST00000551988.5:n.238A>T | ||
ENST00000553106.5:c.149A>T | ENSP00000448059.1:p.Lys50Ile | |
ENST00000635500.1:n.117A>T | ||
NM_000277.1:c.149A>T | NP_000268.1:p.Lys50Ile | |
XM_011538422.1:c.149A>T | XP_011536724.1:p.Lys50Ile | |
NM_000277.2:c.149A>T | NP_000268.1:p.Lys50Ile | |
NM_001354304.1:c.149A>T | NP_001341233.1:p.Lys50Ile | |
XM_017019370.2:c.149A>T | XP_016874859.1:p.Lys50Ile | |
NM_000277.3:c.149A>T MANE Select | NP_000268.1:p.Lys50Ile | |
NM_001354304.2:c.149A>T | NP_001341233.1:p.Lys50Ile |