HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273449A>T , CM000676.2:g.91273449A>T | GRCh38 |
NC_000014.8:g.91739793A>T , CM000676.1:g.91739793A>T | GRCh37 |
NC_000014.7:g.90809546A>T | NCBI36 |
NG_033118.1:g.149396T>A | |
NG_033118.2:g.149396T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5263T>A MANE Select | ENSP00000374507.6:p.Phe1755Ile | |
ENST00000331194.8:c.835T>A | ENSP00000330332.8:p.Phe279Ile | |
ENST00000389857.10:c.5263T>A | ENSP00000374507.6:p.Phe1755Ile | |
ENST00000556726.5:c.1491T>A | ||
NM_001080414.3:c.5263T>A | NP_001073883.2:p.Phe1755Ile | |
XM_011536796.1:c.5155T>A | XP_011535098.1:p.Phe1719Ile | |
XM_011536796.2:c.5155T>A | XP_011535098.1:p.Phe1719Ile | |
XM_017021336.1:c.2344T>A | XP_016876825.1:p.Phe782Ile | |
NM_001080414.4:c.5263T>A MANE Select | NP_001073883.2:p.Phe1755Ile |