HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352099A>T , CM000679.2:g.44352099A>T | GRCh38 |
NC_000017.10:g.42429467A>T , CM000679.1:g.42429467A>T | GRCh37 |
NC_000017.9:g.39784993A>T | NCBI36 |
NG_007886.1:g.11977A>T , LRG_661:g.11977A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1264A>T MANE Select | ENSP00000053867.2:p.Ile422Phe | |
ENST00000639447.1:c.1136+347A>T | ENSP00000492014.1:n.1136+347A>T | |
ENST00000053867.7:c.1264A>T | ENSP00000053867.2:p.Ile422Phe | |
ENST00000586443.1:c.705A>T | ||
ENST00000589265.5:c.793A>T | ENSP00000467616.1:p.Ile265Phe | |
NM_002087.3:c.1264A>T | NP_002078.1:p.Ile422Phe | |
XM_005257253.1:c.1264A>T | XP_005257310.1:p.Ile422Phe | |
XM_024450730.1:c.1264A>T | XP_024306498.1:p.Ile422Phe | |
NM_002087.4:c.1264A>T MANE Select | NP_002078.1:p.Ile422Phe |