HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293297A>T , CM000684.2:g.45293297A>T | GRCh38 |
NC_000022.10:g.45689178A>T , CM000684.1:g.45689178A>T | GRCh37 |
NC_000022.9:g.44067842A>T | NCBI36 |
NG_016203.1:g.13311A>T | |
NG_016203.2:g.13311A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.688A>T MANE Select | ENSP00000216211.4:p.Ile230Phe | |
ENST00000216211.8:c.688A>T | ENSP00000216211.4:p.Ile230Phe | |
ENST00000396082.2:c.325A>T | ENSP00000379391.2:p.Ile109Phe | |
NM_001167574.1:c.325A>T | NP_001161046.1:p.Ile109Phe | |
NM_006953.3:c.688A>T | NP_008884.1:p.Ile230Phe | |
XM_011530364.1:c.694A>T | XP_011528666.1:p.Ile232Phe | |
XM_011530365.1:c.331A>T | XP_011528667.1:p.Ile111Phe | |
NM_006953.4:c.688A>T MANE Select | NP_008884.1:p.Ile230Phe | |
NM_001167574.2:c.325A>T | NP_001161046.1:p.Ile109Phe |