HGVS | Genome Assembly |
---|---|
NC_000010.11:g.102065612G>A , CM000672.2:g.102065612G>A | GRCh38 |
NC_000010.10:g.103825369G>A , CM000672.1:g.103825369G>A | GRCh37 |
NC_000010.9:g.103815359G>A | NCBI36 |
NG_012029.1:g.5223G>A , LRG_564:g.5223G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299238.7:c.138G>A MANE Select | ENSP00000299238.5:p.Leu46= | |
ENST00000299238.6:c.138G>A | ENSP00000299238.5:p.Leu46= | |
NM_024747.5:c.138G>A , LRG_564t1:c.138G>A | NP_079023.2:p.Leu46= | |
NM_024747.6:c.138G>A MANE Select | NP_079023.2:p.Leu46= |