HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352199C>T , CM000679.2:g.44352199C>T | GRCh38 |
NC_000017.10:g.42429567C>T , CM000679.1:g.42429567C>T | GRCh37 |
NC_000017.9:g.39785093C>T | NCBI36 |
NG_007886.1:g.12077C>T , LRG_661:g.12077C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1364C>T MANE Select | ENSP00000053867.2:p.Thr455Ile | |
ENST00000639447.1:c.1137-330C>T | ENSP00000492014.1:n.1137-330C>T | |
ENST00000053867.7:c.1364C>T | ENSP00000053867.2:p.Thr455Ile | |
ENST00000586443.1:c.805C>T | ||
ENST00000589265.5:c.893C>T | ENSP00000467616.1:p.Thr298Ile | |
NM_002087.3:c.1364C>T | NP_002078.1:p.Thr455Ile | |
XM_005257253.1:c.1364C>T | XP_005257310.1:p.Thr455Ile | |
XM_024450730.1:c.1364C>T | XP_024306498.1:p.Thr455Ile | |
NM_002087.4:c.1364C>T MANE Select | NP_002078.1:p.Thr455Ile |