HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47377203G>T , CM000664.2:g.47377203G>T | GRCh38 |
NC_000002.11:g.47604342G>T , CM000664.1:g.47604342G>T | GRCh37 |
NC_000002.10:g.47457846G>T | NCBI36 |
NG_012352.2:g.37041G>T , LRG_215:g.37041G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.555+126G>T MANE Select | ENSP00000263735.4:n.555+126G>T | |
ENST00000263735.8:c.555+126G>T | ENSP00000263735.4:n.555+126G>T | |
ENST00000405271.5:c.639+126G>T | ENSP00000385476.1:n.639+126G>T | |
ENST00000456133.5:c.639+126G>T | ENSP00000410675.1:n.639+126G>T | |
ENST00000490733.1:n.404+126G>T | ||
NM_002354.2:c.555+126G>T , LRG_215t1:c.555+126G>T | NP_002345.2:n.555+126G>T | |
NM_002354.3:c.555+126G>T MANE Select | NP_002345.2:n.555+126G>T |