HGVS | Genome Assembly |
---|---|
NC_000023.11:g.9741343T>A , CM000685.2:g.9741343T>A | GRCh38 |
NC_000023.10:g.9709383T>A , CM000685.1:g.9709383T>A | GRCh37 |
NC_000023.9:g.9669383T>A | NCBI36 |
NG_009074.1:g.29535A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000467482.6:c.880A>T MANE Select | ENSP00000417161.1:p.Ile294Phe | |
ENST00000447366.5:c.628A>T | ENSP00000390546.2:p.Ile210Phe | |
ENST00000467482.5:c.880A>T | ENSP00000417161.1:p.Ile294Phe | |
NM_000273.2:c.880A>T | NP_000264.2:p.Ile294Phe | |
XM_005274541.2:c.880A>T | XP_005274598.1:p.Ile294Phe | |
XM_005274541.3:c.880A>T | XP_005274598.1:p.Ile294Phe | |
XM_024452387.1:c.628A>T | XP_024308155.1:p.Ile210Phe | |
XM_024452388.1:c.628A>T | XP_024308156.1:p.Ile210Phe | |
NM_000273.3:c.880A>T MANE Select | NP_000264.2:p.Ile294Phe |