HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218640G>T , CM000676.2:g.93218640G>T | GRCh38 |
NC_000014.8:g.93684986G>T , CM000676.1:g.93684986G>T | GRCh37 |
NC_000014.7:g.92754739G>T | NCBI36 |
NG_051089.1:g.16585G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.715G>T MANE Select | ENSP00000013070.6:p.Asp239Tyr | |
ENST00000013070.10:c.715G>T | ENSP00000013070.6:p.Asp239Tyr | |
ENST00000416753.5:c.487G>T | ENSP00000391706.2:p.Asp163Tyr | |
ENST00000553674.1:c.*416G>T | ENSP00000450470.1:n.*416G>T | |
ENST00000553857.5:c.378+3359G>T | ||
ENST00000556871.5:c.424G>T | ENSP00000451022.1:p.Asp142Tyr | |
NM_175748.3:c.715G>T | NP_786924.2:p.Asp239Tyr | |
NR_038150.1:n.817G>T | ||
NM_175748.4:c.715G>T MANE Select | NP_786924.2:p.Asp239Tyr | |
NR_038150.2:n.617G>T |