HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189004069C>A , CM000664.2:g.189004069C>A | GRCh38 |
NC_000002.11:g.189868795C>A , CM000664.1:g.189868795C>A | GRCh37 |
NC_000002.10:g.189577040C>A | NCBI36 |
NG_007404.1:g.34697C>A , LRG_3:g.34697C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2650C>A | ENSP00000415346.2:p.Pro884Thr | |
ENST00000304636.9:c.2749C>A MANE Select | ENSP00000304408.4:p.Pro917Thr | |
ENST00000304636.7:c.2749C>A | ENSP00000304408.3:p.Pro917Thr | |
ENST00000317840.9:c.2527+1033C>A | ENSP00000315243.6:n.2527+1033C>A | |
NM_000090.3:c.2749C>A , LRG_3t1:c.2749C>A | NP_000081.1:p.Pro917Thr | |
NM_000090.4:c.2749C>A MANE Select | NP_000081.2:p.Pro917Thr |