HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47376938T>A , CM000664.2:g.47376938T>A | GRCh38 |
NC_000002.11:g.47604077T>A , CM000664.1:g.47604077T>A | GRCh37 |
NC_000002.10:g.47457581T>A | NCBI36 |
NG_012352.2:g.36776T>A , LRG_215:g.36776T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.492-76T>A MANE Select | ENSP00000263735.4:n.492-76T>A | |
ENST00000263735.8:c.492-76T>A | ENSP00000263735.4:n.492-76T>A | |
ENST00000405271.5:c.576-76T>A | ENSP00000385476.1:n.576-76T>A | |
ENST00000456133.5:c.576-76T>A | ENSP00000410675.1:n.576-76T>A | |
ENST00000490733.1:n.341-76T>A | ||
NM_002354.2:c.492-76T>A , LRG_215t1:c.492-76T>A | NP_002345.2:n.492-76T>A | |
NM_002354.3:c.492-76T>A MANE Select | NP_002345.2:n.492-76T>A |