HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16290531T>A , CM000668.2:g.16290531T>A | GRCh38 |
NC_000006.11:g.16290762T>A , CM000668.1:g.16290762T>A | GRCh37 |
NC_000006.10:g.16398741T>A | NCBI36 |
NG_013303.1:g.56952T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259727.5:c.767T>A MANE Select | ENSP00000259727.4:p.Phe256Tyr | |
ENST00000259727.4:c.767T>A | ENSP00000259727.4:p.Phe256Tyr | |
ENST00000540478.1:n.587T>A | ||
ENST00000543191.5:n.262T>A | ||
ENST00000544145.1:n.121T>A | ||
NM_006877.3:c.767T>A | NP_006868.3:p.Phe256Tyr | |
XM_011514508.1:c.910T>A | XP_011512810.1:p.Leu304Met | |
XM_011514508.2:c.910T>A | XP_011512810.1:p.Leu304Met | |
NM_006877.4:c.767T>A MANE Select | NP_006868.3:p.Phe256Tyr |