HGVS | Genome Assembly |
---|---|
NC_000017.11:g.43755629T>A , CM000679.2:g.43755629T>A | GRCh38 |
NC_000017.10:g.41832997T>A , CM000679.1:g.41832997T>A | GRCh37 |
NC_000017.9:g.39188523T>A | NCBI36 |
NG_008078.2:g.8160A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301691.3:c.355A>T MANE Select | ENSP00000301691.1:p.Ile119Phe | |
ENST00000301691.2:c.355A>T | ENSP00000301691.1:p.Ile119Phe | |
NM_025237.2:c.355A>T | NP_079513.1:p.Ile119Phe | |
NM_025237.3:c.355A>T MANE Select | NP_079513.1:p.Ile119Phe |