HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352177A>C , CM000679.2:g.44352177A>C | GRCh38 |
NC_000017.10:g.42429545A>C , CM000679.1:g.42429545A>C | GRCh37 |
NC_000017.9:g.39785071A>C | NCBI36 |
NG_007886.1:g.12055A>C , LRG_661:g.12055A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1342A>C MANE Select | ENSP00000053867.2:p.Thr448Pro | |
ENST00000639447.1:c.1137-352A>C | ENSP00000492014.1:n.1137-352A>C | |
ENST00000053867.7:c.1342A>C | ENSP00000053867.2:p.Thr448Pro | |
ENST00000586443.1:c.783A>C | ||
ENST00000589265.5:c.871A>C | ENSP00000467616.1:p.Thr291Pro | |
NM_002087.3:c.1342A>C | NP_002078.1:p.Thr448Pro | |
XM_005257253.1:c.1342A>C | XP_005257310.1:p.Thr448Pro | |
XM_024450730.1:c.1342A>C | XP_024306498.1:p.Thr448Pro | |
NM_002087.4:c.1342A>C MANE Select | NP_002078.1:p.Thr448Pro |