HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48974694C>A , CM000681.2:g.48974694C>A | GRCh38 |
NC_000019.9:g.49477951C>A , CM000681.1:g.49477951C>A | GRCh37 |
NC_000019.8:g.54169763C>A | NCBI36 |
NG_012923.1:g.23660G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323798.8:c.1348G>T MANE Select | ENSP00000317904.3:p.Asp450Tyr | |
ENST00000263276.6:c.1156G>T | ENSP00000263276.6:p.Asp386Tyr | |
ENST00000323798.7:c.1348G>T | ENSP00000317904.3:p.Asp450Tyr | |
ENST00000472004.5:n.103G>T | ||
ENST00000496048.1:n.255G>T | ||
NM_001161587.1:c.1156G>T | NP_001155059.1:p.Asp386Tyr | |
NM_002103.4:c.1348G>T | NP_002094.2:p.Asp450Tyr | |
NR_027763.1:n.1407G>T | ||
NM_002103.5:c.1348G>T MANE Select | NP_002094.2:p.Asp450Tyr | |
NM_001161587.2:c.1156G>T | NP_001155059.1:p.Asp386Tyr | |
NR_027763.2:n.1363G>T |